Documente Academic
Documente Profesional
Documente Cultură
P: 1 OF 4
PATIENT
Patient Name: XXX
AMD access#: GEN-14-XX
Date of Birth: XX/XX/XXX
Gender: F
SPECIMEN INFORMATION
Specimen : Buccal swab.
Date Received: 0X/X/20XX
Initiation of Testing: 0X/XX/20XX
Completion of Testing: 0X/0X/20XX
ORDERED BY
Ordering Physicians: Dr xxxx
PREVENTEST-MOLECULAR PANEL*
* PREVENTEST MOLECULAR PANEL is a full risk sequencing of germline mutations involved in familial cancer predisposition. The panel
described as complementary information, interrogates 34 germline key-cancer predisposition genes, targeting mutational hotspots associated
with both common and rare familial cancer syndromes. All translated exons and immediately adjacent intronic regions are sequenced. Single
nucleotides polymorphisms, duplications, insertions, deletions, and variants of uncertain significance can be detected.
METHODOLOGY
TARGET GENE(S): 34 germline cancer genes predisposition
A molecular library was prepared from 40 ng of genomic DNA isolated from buccal swab sample received in our lab by the name of XXXXX .
After quantification, a pool of 10,400 primer pairs were used to amplify the coding exons of target genes. A template-positive ion sphere
particles for up to 200 base-read sequencing was constructed and loaded into a microchip for sequencing. The DNA reading was performed by
next generation- Ion Semiconductor Sequencing, based on the detection of hydrogen ions that are released during the polymerization of DNA.
Genetic data was analyzed by bioinformatics software developed by Life Technologies, Inc, and stored under Variant call format (VCF). (1)(2)
(1)Bio-IT World, Davies, K. Powering Preventative Medicine. Bio-IT World 2011.
(2)GenomeWeb DNA Electronics Licenses IP to Ion Torrent. August 2010.
RESULT- SUMMARY
RESULT
POSITIVE
DESCRIPTION
DVD
Legend:
DVD: Deleterious variant detected, associated with a significantly increased cancer risk.
SVD: Suspected variant detected. Evidence indicates with a high degree of certainty that the variant is associated with significantly increased
cancer risk.
VUS: Variant of Uncertain Significance. There is insufficient evidence to determine if the variant is associated with an increased cancer risk.
PR: Polymorphism reported. Evidence indicates with a high degree of certainty that the variant is not associated with an increased cancer risk.
BP: Benign polymorphism. The change is not associated with an increased cancer risk. Because these variants are clinically benign, they are not
reported.
Advanced Molecular Diagnostics, LLC 19 Spear Road Suite 312 Ramsey, NJ 07446 P 201.825.0186 F 201.962.7393
info@geneIDlab.com CLIA # 31D2053667 NPI # 179002354
GeneIDLab.com
P: 2 OF 4
*Disclaimer
Some genes displayed as "Complementary Information" have not been yet validated for clinical use. The contents of this information is for
research use only and not intent for any human therapeutic or diagnostic use.
GENE
APC
ATM
BARD-1
BMPR1A
BRAF
BRCA-1
BRCA-2
BRIP-1
CDH-1
CDK-4
CDKN-2A
CHEK-2
EGFR
ELAC-2
EPCAM
HRAS-1
KRAS
RESULT
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
DESCRIPTION
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
GENE
MLH-1
MRE-11A
MSH-2
MSH-6
MUTYH
NBN
PALB-2
PMS-2
PTCH-1
PTEN
RAD-50
RAD-51C
RAD-51D
RET
SMAD-4
STK-11
TP-53
RESULT
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
POSITIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
NEGATIVE
DESCRIPTION
BP
BP
BP
BP
DVD
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
BP
Legend:
DVD: Deleterious variant detected, associated with a significantly increased cancer risk.
SVD: Suspected variant detected. Evidence indicates with a high degree of certainty that the variant is associated with significantly increased
cancer risk.
VUS: Variant of Uncertain Significance. There is insufficient evidence to determine if the variant is associated with an increased cancer risk.
PR: Polymorphism reported. Evidence indicates with a high degree of certainty that the variant is not associated with an increased cancer risk.
BP: Benign polymorphism. The change is not associated with an increased cancer risk. Because these variants are clinically benign, they are not
reported.
MUTYH- D.V.D. DESCRIPTION
FINDING
MUTYH missense, exon 13
CODON
c.1187G>A
PROTEIN
p.Gly396Asp/bi-allelic
INTERPRETATION
Deleterious
Advanced Molecular Diagnostics, LLC 19 Spear Road Suite 312 Ramsey, NJ 07446 P 201.825.0186 F 201.962.7393 GeneSiteLab.com
info@genesitelab.com CLIA # 31D2053667 NPI # 17900235
P: 3 OF 4
P: 4 OF 4
Genetic counseling. MAP is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of
being affected, a 50% chance of being a carrier with a small increased risk for CRC, and a 25% chance of being unaffected and not a carrier.
It is recommended that these test results be communicated to the patient in a setting that includes appropriate genetic counseling by a
licensed/certified genetic counselor.
These test results should only be used in conjunction with the patients clinical history and any previous analysis of appropriate family
members. Further clinical assessment and family history is recommended to determine patient risk for hereditary cancer.
Advanced Molecular Diagnostics, LLC 19 Spear Road Suite 312 Ramsey, NJ 07446 P 201.825.0186 F 201.962.7393 GeneIDLab.com info@geneIDlab.com
CLIA # 31D2053667 NPI # 17900235
9/3/2013
Date ___________________________
Patient Information
Physician Information
________________________________
Medical Center/Practice
________________________________
Primary Provider
________________________________
NPI
Billing
2
________________________________
Practice Contact
________________________________
E-mail
Personal and/or family history of cancer. What type? (check all that apply)
PATIENT
FAMILy
MEMBER
PATIENT
Breast
Ovarian
Colon (or rectal)
Uterine (not cervical)
Pancreatic
Stomach or intestinal
Kidney or urinary tract
Thyroid
________________________________
Address
FAMILy
MEMBER
Melanoma
Colon polyps
________________________________
Secondary Provider
________________________________
NPI
________________________________________________
________________________________
Referring Provider's Signature
Laboratory Preferences
4
(760) 203-1194
InformedDNA considers test quality, cost, and physician preference when selecting a laboratory.
(FOF*%-BC"EWBODFE.PMFDVMBS%JBHOPTUJDT
--$
Please specify any lab preferences: ___________________________________________________
TQFBS3E4VJUF3BNTFZ/+
b. Insurance documentation.
To refer by phone
800.975.4819
To refer by email
referral@informedDNA.com
________________ _______________
Phone
Fax
To refer online
refer.informedDNA.com
2013 Informed Medical Decisions, Inc.
Personalized
Healthcare Report
Cancer Genetic Counseling
Provided by:
Whitney L. Ducaine MGC, CGC
Prepared for:
Dr. Gene Genetest
1-800-975-4819
www.informedDNA.com
NOTICE: If you are not, or not authorized by Ms. Test Patient, to review this document, please return to designated
recipient or contact InformedDNA at 1-800-975-4819 and/or mail entire document to: INFORMED MEDICAL DECISIONS,
INC, Attn: Security Officer, 360 Central Ave, Suite 1230 St. Petersburg, FL 33701
Gene Genetest, MD
DOB: 1/1/1973
Overview
IMPRESSIONS
1.
Ms. Test Patient is a 39 yr old non-Jewish, Caucasian (English, Irish and Scottish) and
African-American female with a personal and family history of cancer.
2.
Personal history of bilateral breast cancer diagnosed at age 38 (DCIS and invasive triple
negative cancer).
3.
4.
5.
This result confirms the diagnosis of Hereditary Breast and Ovarian Cancer syndrome
(HBOC).
RECOMMENDATIONS
1.
2.
www.informedDNA.com | 800.975.4819
2 of 14
Gene Genetest, MD
DOB: 1/1/1973
MEDICAL HISTORY
Fibrocystic breasts
SCREENING HISTORY
Breast self exam (BSE) monthly since age 18
Clinical breast exam (CBE) annually since age 25
Mammogram annually since age 35
Breast ultrasound annually since age 35
Breast MRI once at age 38
Pelvic exam/Pap annually since age 25
Colonoscopy never
HORMONE HISTORY
Menarche at age 13; First child born at age 17; Premenopausal.
No oral contraceptive use; NuvaRing for 15 months (ages 37 to 38); No hormone replacement
therapy (HRT) use; No Tamoxifen/Raloxifene use.
SOCIAL HISTORY
Never smoker
6-10 glasses of alcohol per week on average; Exercises 2-3 times per week
www.informedDNA.com | 800.975.4819
3 of 14
Gene Genetest, MD
DOB: 1/1/1973
Cancer Type
70)
70)
56%-87%
8%
Up to 44%
<2%
BRCA1
Unknown
<0.05%
BRCA2
6%
Breast
Ovarian
BRCA1
BRCA2
27%
Male breast
64%
BRCA2
50%
16%
Unknown
8%
BRCA1
1.3%
0.5%
BRCA2
2%
Prostate
Pancreatic
Melanoma
2%-11%
2%
BRCA1
Unknown
BRCA2
5%
The following are standard recommendations for hereditary breast and ovarian cancer
syndrome. These recommendations should be discussed with a doctor in light of the patient's
personal history.
For Women
Increased Surveillance
www.informedDNA.com | 800.975.4819
4 of 14
Gene Genetest, MD
DOB: 1/1/1973
Chemoprevention
The risks and benefits of drugs to reduce the risk of breast cancer (i.e. tamoxifen) and ovarian
cancer (i.e. oral contraceptives) should be discussed with a doctor.
Preventive Surgery
The option of preventive mastectomy should be discussed with a doctor (Ms. Test
There are no standard screening guidelines for other cancer risks that are associated with BRCA
mutations, including pancreatic cancer and melanoma. It is recommended that a full body skin
exam be considered. A consult with a gastroenterologist to discuss pancreatic cancer is also
reasonable, with consideration given to research studies on pancreatic cancer screening.
OTHER CANCER RISKS NOT RELATED TO BRCA1/2:
COLORECTAL CANCER
Based on the lack of colorectal polyps and cancer in the family history, there is no reason to
consider the patient at increased risk to develop this type of cancer. The average persons risk
to develop colorectal cancer is 6% in a lifetime ( Gastroenterology 2000;119:837-853). This
history should be discussed with a doctor who can make appropriate recommendations for
colonoscopy screening. The National Comprehensive Cancer Networks clinical practice
guidelines (www.nccn.org) would recommend this procedure every 10 years, starting at age 50.
SKIN CANCER (NON-MELANOMA)
The patient's maternal grandfather's diagnosis of non-melanoma skin cancer may increase the
risk to develop this disease, but the exact risk is unknown. The patient should discuss skin
cancer screening with a doctor, including clinical skin exams and self skin exams. More
information about examining skin for signs of skin cancer is available at:
http://www.aad.org/spot-skin-cancer/understanding-skin-cancer/how-do-i-check-myskin. It is also important to limit sun exposure and use proper protection (i.e. clothing, hats,
sunscreen) when outdoors.
www.informedDNA.com | 800.975.4819
5 of 14
Gene Genetest, MD
DOB: 1/1/1973
Since the patient has tested positive for a BRCA2 gene mutation, each first-degree relative
(parents, children, siblings) has a 50% chance to carry the same mutation. Other more distant
relatives may also have the mutation. Any adult relatives can be tested for the specific gene
mutation ("single site" testing) to better understand their personal cancer risks. People who
carry the gene mutation are at increased risk for cancer and require special screening and
medical management. Children of these individuals are also at risk to carry the gene mutation
and should consider "single site" testing when they reach adulthood (typically at 18-25 years of
age). Relatives who do not carry the gene mutation are likely at average risk for breast and
ovarian cancer and can follow general population cancer screening guidelines. Children of
these individuals are not at risk to carry the gene mutation and do not need to consider "single
site" testing.
Based on the family history, it is unclear from which parent the BRCA2 mutation was inherited.
We would encourage the patients parents to have single site testing for this mutation to clarify
which family member are truly at risk. If this mutation were identified in a maternal or paternal
relative, this would also confirm that it was inherited from that side of the family.
The following people should receive genetic counseling and consider genetic testing:
Relative
Daughters
50%
Siblings
50%
Parents
50%
Aunts/Uncles
25%
Cousins
12.5%
If any relatives choose not to have genetic testing, they should be managed conservatively and
follow the screening guidelines for hereditary breast and ovarian cancer syndrome. Relatives
who are interested in genetic testing should consider speaking with a genetic counselor either
via telephone (www.informeddna.com or 800-975-4819) or in their local area (www.nsgc.org or
http://www.cancer.gov/search/genetics_services/). Enclosed is a letter that can be used to
share this information with the family.
SUPPORT RESOURCES
The following resources provide information and support through informational websites,
message boards, and peer-to-peer programs with other individuals from families at high risk
for breast or ovarian cancer:
www.informedDNA.com | 800.975.4819
6 of 14
Gene Genetest, MD
DOB: 1/1/1973
Confronting Hereditary Breast and Ovarian Cancer: Identify Your Risk, Understand Your
Options, Change Your Destiny (A Johns Hopkins Press Health Book) by Sue Friedman,
Rebecca Sutphen, Kathy Steligo with forward by Mark H. Greene (Jan 25, 2012)
FUTURE CONSIDERATIONS
We should be contacted for updated risks and recommendations if:
any relative has a genetic test for hereditary cancer, no matter what the result.
A follow up appointment is available to the patient at any time to review the recommendations
included in this report and discuss any questions after further considering these results and
discussing them with the family and providers. We can also discuss the implications for the
patient's relatives based on her parents test results. Ms. Test Patient's genetic counselor will
follow up with her within six months to check in and see if a follow up appointment is desired.
Plan
1.
Ms. Test Patient will speak to her family members about pursuing BRCA2 single site
genetic counseling and testing.
2.
Ms. Test Patient will speak to her doctors about the management suggestions outlined
in this letter.
3.
Ms. Test Patient will follow-up with us if her family history were to change, as this
information may impact our recommendations.
7 of 14
Gene Genetest, MD
DOB: 1/1/1973
KEEP IN CONTACT:
The field of genetic medicine is rapidly evolving and changing. The information provided in this
report is based on current testing technology, national best practice guidelines and insurance
coverage criteria. Please keep in contact with your genetic counselor annually for any advances
that may impact the information in this report.
Disclaimer: Our risk assessments are based entirely on an individuals reported personal and family history, as well as
any genetic test results. The accuracy of our risk assessment depends on the correctness of the information we are
given regarding your personal and family medical history. If you discover that any of the family history information you
have provided is different than summarized in this report, or if any other individuals in your family develop a medical
condition, please contact us with this information. Additionally, please contact us if anyone in your family has genetic
testing, no matter what the result. Please call an InformedDNA Patient Care Coordinator at (800) 975-4819 to report
any errors in this Summary Report.
www.informedDNA.com | 800.975.4819
8 of 14
Gene Genetest, MD
DOB: 1/1/1973
Please note the colored symbols/icons reported on the pedigree represent the information provided below each
individual, which may include a symptom, diagnosis or genetic status. A half colored icon does not necessarily refer to
carrier status and a full colored icon does not necessarily refer to an individual with a known genetic condition. To
determine the meaning of the symbol, please refer to the notes made below each individual on the pedigree.
www.informedDNA.com | 800.975.4819
9 of 14
Gene Genetest, MD
DOB: 1/1/1973
Letter to Family
Prepared for the family members of:
Ms. Test Patient
Prepared By:
Whitney Ducaine, MGC, CGC
1-800-975-4819
www.informedDNA.com
www.informedDNA.com | 800.975.4819
10 of 14
Gene Genetest, MD
DOB: 1/1/1973
Overview
This letter is to notify you that a member of your family has tested positive for a hereditary
gene mutation that results in an increased risk to develop certain forms of cancer. We are
writing this letter on her behalf to let you know you are also at an increased risk to carry this
same gene mutation. Additional information on your risk and what you can do to be more
informed is outlined below.
Risk in the
a BRCA mutation
general population
56%-87%
8%
BRCA1
Up to 44%
Less than 2%
BRCA2
27%
Breast
Ovarian
Male breast
BRCA1
Unknown
BRCA2
6%
64%
BRCA2
50%
www.informedDNA.com | 800.975.4819
<0.05%
2%-11%
11 of 14
Gene Genetest, MD
DOB: 1/1/1973
16%
Unknown
8%
8%
1.3%
BRCA2
2%
0.5%
Melanoma
BRCA1
BRCA2
Unknown
5%
2%
Specific screening and medical management recommendations exist for individuals with
hereditary breast and ovarian cancer syndrome. These recommendations allow high risk
individuals to catch a cancer early when it is treatable, or even prevent cancer altogether. A
genetic counselor can review these risks with you in more detail based upon your results from
genetic testing. If you test negative for the mutation in your family your risk for cancer will be
closer to general population risk.
Relatives who carry the gene mutation are at increased risk for cancer and require special
screening and medical management. Children of these individuals are also at risk to carry the
gene mutation and should consider "single site" testing when they reach adulthood (typically at
18 years of age).
Relatives who do not carry the gene mutation are at average risk for cancer and can follow
general population cancer screening guidelines. Children of these individuals are not at risk to
carry the gene mutation and do not need to consider "single site" testing.
www.informedDNA.com | 800.975.4819
12 of 14
Gene Genetest, MD
DOB: 1/1/1973
Disclaimer: Our risk assessments are based entirely on an individuals reported personal and family
history, as well as any genetic test results.
correctness of the information we are given regarding your personal and family medical history. If you
discover that any of the family history information you have provided is different than summarized in this
report, or if any other individuals in your family develop a medical condition, please contact us with this
information. Additionally, please contact us if anyone in your family has genetic testing, no matter what
the result. Please call InformedDNA Patient Care Coordinator at (800) 975-4819 to report any errors in
this Family Letter.
www.informedDNA.com | 800.975.4819
13 of 14
Gene Genetest, MD
DOB: 1/1/1973
Your family members can schedule an appointment with your genetic counselor and have
full access to this information for their genetic counseling session and risk assessment.
PLEASE LIST FIRST AND LAST NAMES OF ALL FAMILY MEMBERS WHO MAY ACCESS YOUR INFORMATION
___________________________________________________
www.informedDNA.com | 800.975.4819
________________________
Date
14 of 14
PREVENTEST
Analysis
Cancer Full Risk Analysis
1
Open GeneID BRCA Analysis Kit
envelope. Complete enclosed
requisition and consent forms Write
Patient's name and date on outside of
each plastic swab tube
3
Insert the swab into the patients
mouth and rub firmly against the inside
of the cheek or underneath lower and
upper lip. For standard DNA collection
rub for a minimum of 45 seconds.
Important use reasonable, firm and
solid pressure.
5
Seal the tubes securely with the caps
provided and repeat procedure.
2
Remove the swab from the tube,
taking care not to touch the white
swab head with your fingers. Use two
swabs per patient.
4
Place the swabs back into each tube.
Do not touch the swab head with your
fingers.
6
Placed sealed tubes and Requisition and
Consent Forms into the pre-paid Fed
Exevelope and call Fed Ex for pick up
(201) 825-0186
ORDERING PHYSICIAN
(201) 962-7393
Info@GeneIDLab.com
SEND RESULTS TO
NAME (LAST,FIRST,DEGREE)
NPI #
ADDRESS
CITY
OFFICE PHONE
FAX
NAME (LAST,FIRST,DEGREE)
STATE
ZIP
NPI #
ADDRESS
CITY
OFFICE PHONE
FAX
PATIENT INFORMATION
PATIENT ID#
ADDRESS
CITY
www.GeneIDLab.com
STATE
FEMALE
ZIP
MALE
DAYTIME PHONE
STATE
ZIP
AFRICA
NEAR EAST/MIDDLE EAST
ASIA
NATIVE AMERICAN
OTHER________________
FAMILY HISTORY OF CANCER
(CHECK ALL THAT APPLY AND INCLUDE AT LEAST ONE ICD-9 CODE)
RELATIONSHIP
_______________
_______________
_______________
_______________
_______________
_______________
AGE AT DX
_______
_______
_______
_______
_______
_______
TEST REQUIRED
(APC, ATM, BRCA1, BRCA2, CDH1, CDKN2A, HER2, HRAS, MLH1, PTEN, RET, SMAD4, STK11, TP53
PAYMENT INFORMATION
OPTION 1: PLEASE BILL MY INSURANCE (requires patient signature and enlarged copy of both sides of insurance card(s). If two cards are submitted, indicate which is primary)
Name of Policy Holder: __________________________________
Patient Relationship to Policy Holder:
Self Spouse
DOB: _____________
Insurance ID #/ SSN: ___________________________
Child Other Authorization / Referral #: ________________________________
I hereby represent that I am covered by insurance and authorize Advanced Molecular Diagnostics, LLC to furnish my designated insurance carrier, health plan, or third party administrator the
information on this form and other information provided by my healthcare provider necessary for reimbursement. I authorize Plan benefits to be payable to Advanced Molecular Diagnostics,
LLC. I understand that GeneID will contact me prior to test start with my total financial responsibility. If requested, I agree to assist Advanced Molecular Diagnostics, LLC in resolving
insurance claim issues and if I do not assist, I may be responsible for the full test cost. I permit a copy of this authorization to be used in place of the original. I authorize Advanced Molecular
Diagnostics, LLC to inform my plan of my test result ONLY if it is negative and ONLY if test results are required for preauthorization of or payment for reflex/ additional testing.
__________________________________________________________________________
______________________________________________________
Personal Check, Cashiers Check, or money order enclosed, Please make payable to Advanced Molecular Diagnostics, LLC.
Advanced Molecular Diagnostics, LLC. 19 Spear Road Suite 312 Ramsey, NJ 07446 P. 201.825.0186 F. 201.962.7393
Page 1 of 2
I am interested in obtaining a genetic test by submitting a biological sample of my own blood, tissue or other body fluids.
BRCA-1
OR
I am the parent or legal guardian of the person who is interested in obtaining a genetic test by submitting a biological sample of that persons blood, tissue or
other body fluids. The person for whom the sample is submitted
In the event that I am completing this
form for a person other than myself, I understand that the terms I me and mine as used below refer to the person for whom the test will be performed.
I understand
Introduction.
This is a voluntary test for inherited susceptibility to cancer and you may wish to seek genetic counseling prior to signing this form. Read this form carefully
before making your decision about testing.
Test Purpose and methodology.
The purpose of this molecular genetic test is to ascertain if I am, my child is, or my unborn child is carrying mutation(s) predisposing to or causing the specific
disease or condition. A supplemental disease description sheet is available from Advanced Molecular Diagnostics- The blood, body fluid, or tissue specimen
submitted is required for isolation and purification of DNA for molecular genetic testing. Advanced Molecular Diagnostics, LLC. will analyze the DNA of a
specific gene(s) to look for mutations associated with a particular hereditary cancer syndrome.
Test Results.
I understand that due to the complexity of DNA based testing and the implications of the results, these results will be reported only through the patients
designated physician(s) or genetic counselor (where allowed) and that I must contact my provider to obtain the results of the test. The test results, in addition,
could be released to all who, by law, may have access to such data.
I understand
that the results should be evaluated in the context of personal and family health history, the results of physical examination, laboratory and
hospital test, and clinical impression of my healthcare provider. I understand that possible result outcomes include positive, negative and uncertain.
I understand
that if results of the molecular genetics tests are positive, meaning that a mutation (s) that is associated with an increased risk for
hereditary cancer was identified, I may be a carrier of, predisposed to, or have the specific disease or condition tested for and I may want to consider further
independent testing. I understand that knowing this information may help me and my doctor to make more informed choices about my health care, such as
screening, risk-reducing surgeries and preventive medication strategies.
I understand
that if results of the molecular genetics tests are negative, meaning that a mutation was not identified, I may not be a carrier of, predisposed
to, or have the specific disease or condition tested for and I may want to consider further independent testing, consult with my physician, or pursue genetic
counseling.
I understand
that if I am the first person tested in my family, I still have at least the same risk of cancer as does a person in the general population. I may
still be at greater than average risk for hereditary cancer due to a genetic predisposition that cannot be detected by this test, either in the gene(s) I was tested for or
in another gene linked to hereditary cancer.
I understand
population.
that if my test is negative for a mutation known to be in my family, I am considered to have the same risks as others in the general
I understand the limitations of these results: the test results could be based upon probabilities, and may not provide a 100% definitive conclusion to either
genetic disease predisposition or manifestations.
I understand
that this test analyzes only certain important gene(s) associated with a specific hereditary cancer syndrome(s). Genetic testing clarifies
cancer risks for only those cancers related to the genes analyzed.
I understand
accurate results.
that the molecular genetic test may not generate results and that an additional blood, body fluid, or tissue sample may be needed to obtain
I understand
that the molecular genetic test may not generate accurate results for the following reasons: sample mix-up, samples unavailable from critical
family members, maternal contamination of prenatal samples, inaccurate reporting of family relationships, or technical problems, but not limited to these.
Advanced Molecular Diagnostics, LLC. 19 Spear Road Suite 312 Ramsey, NJ 07446 P. 201.825.0186 F. 201.962.7393
Page 2 of 2
I understand
risk.
that an uncertain result could be reported, meaning that a genetic change was detected but it is not known if this change is linked to cancer
I understand
that I still have at least the same risk of cancer as the general population. In addition, I may still be at greater than average risk due to this
change or a genetic predisposition that cannot be detected by this test, either in the gene(s) I was tested for or in another gene linked to hereditary cancer.
I understand
that the genetic tests results have implications for blood relatives. In consultation with an appropriate healthcare provider, I may wish to
discuss sharing the test results with certain blood relatives who may be at risk. If I decide to do this, I should also consider the best way to make this disclosure.
I understand
that Advanced Molecular Diagnostics, LLC. keeps test results confidential and is fully in compliance with all Health Insurance Portability
and Accountability Act (HIPAA) regulations. Advanced Molecular Diagnostics, LLC. will only release your test results to my health care provider, his or her
designee, or to another healthcare provider as directed by me (or a person legally authorized to act on my behalf) in writing, or otherwise as required by federal
and state laws.
I understand
Advanced Molecular Diagnostics, LLC. reserves the right to: 1) suggest additional molecular testing if it would help in resolving the
patients clinical genotyping, 2) report additional testing results (other than requested) if they are clinically relevant to the patients and their families, and refuse
testing if one of the conditions in the Patient Consent form is not met.
Use of Specimens.
After testing is completed, I understand that my blood, body fluid or tissue specimens may be disposed of or retained indefinitely for research, test validation,
and/or education as long as my privacy is maintained. I understand that no compensation will be given nor will funds be forthcoming due to any invention(s)
resulting from research and development using the specimens submitted. I understand that I may refuse to submit my specimen for use in this way and may
withdraw my consent at any time by contacting the medical director. I understand that my refusal to consent to medical research will not affect my results.
Indicate consent or denial below. If a box is not marked consent is implied.
Consent to the use of my sample for research.
NO
Recommendations.
I understand that due to the dynamics of this field, there continues to be new information and data. It is recommended that I keep in contact with my healthcare
provider, annually, to learn of any new developments in cancer genetics and to provide any updates to my personal or family history which may affect my cancer
risks.
Financial Responsibility.
Genetic testing of appropriate individuals is typically reimbursed by health insurance or covered by HMOs. I understand that I am responsible for any cost of the
genetic test not reimbursed by insurance. I understand that if test cancellations are received prior to test set-up, processing will be honored at no charge. I
understand that when requests for test cancellation are received after set-up, a cancellation report will be generated and a set-up fee will be charged. Once testing
is initiated cancellation is not possible. I understand that I am responsible for all charges for testing and will be contacted for payment in the event my health
plan does not reimburse for the test or AMD does not receive a response from my health plan in a reasonable length of time.
Patient Consent Statement.
By signing below, I, the patient having the test performed, acknowledge that:
I have read or have had read to me all of the above statements and understand the information regarding molecular genetics testing and have had the opportunity to ask questions I
might have about the testing, the procedure, the risks, and the alternatives prior to my informed consent. I agree to have the molecular genetic testing. I consent to being tested for
predisposition to hereditary cancer and I will discuss the results and appropriate medical management with my healthcare provider/ genetic counselor. I am the owner of my medical
history and test results. My healthcare practioner should not discuss or disclose my test results and associated medical history to a third party, unless related to treatment or payment
for treatment, without my express written authorization.
_____________________________________
__________
Date of Birth
____________________________________
__________
Date
*Genetic testing on children under the age of 18 requires that the ordering healthcare provider obtain an informed consent
from a parent or legal guardian. If legal guardian, specify relationship to the parent: _________________________________
!
!
1. BOARD CERTIFICATION
Board Certified in Medical Genetics, School of Medicine, Second District of the Province of Santa Fe,
Argentina- 1999
Board Certified in Gynecology, School of Medicine, Second District of the Province of Santa Fe, Argentina1984
5. TEACHING EXPERIENCE
Dexus Institute, Barcelona, Spain, 1997 1999
Director, Ibero-American Society of Applied Genetics
Department of Pediatrics, National University of Rosario School of Medicine, Rosario, Argentina, 1994 1997
Professor, Clinical Genetics
Department of Human Physiology, National University of Rosario School of Medicine, Rosario, Argentina, 1987
Board of Examiners
Department of Human Physiology, National University of Rosario School of Medicine, Rosario, Argentina, 1983
1985
Professor of Physiology
Roque Saenz Pea Hospital, National University of Rosario School of Medicine, Rosario, Argentina, 1980 1984
Professor of Gynecology
12. LANGUAGES
Fluent in English and Spanish
Working knowledge of French, Italian and Hebrew
Gene
APC
BRCA1
Breast cancer
Ovarian cancer
Male breast cancer
Pancreatic cancer
Prostate cancer
1, 23, 24
1, 23, 24, 26
1, 23, 25
1, 2, 23, 28
23, 27
BRCA2
Breast cancer
Ovarian cancer
Male breast cancer
Pancreatic cancer
Prostate cancer
Melanoma
Breast cancer
1, 23, 24
1, 23, 24, 26
1, 23, 25
1, 2, 23, 28
23, 27
2, 33
CDH1
Breast cancer
Hereditary diffuse gastric cancer
Colorectal cancer
Ovarian cancer
Prostate cancer
1, 2, 36
1,2, 36
1, 37
2, 39
2, 40
CDK4
CDKN2A
2, 42
2, 43
2, 44
2, 45
2, 46, 49
ATM
BARD1
BMPR1A
BRAF
BRIP1
CHEK2
References
1, 2, 3
2, 5
2, 4
2, 7
6
2, 10, 15
2, 11
2, 13
2, 14
2, 15
2, 16
1, 2, 17
1, 18
2, 149
2, 34
EGFR
Li-Fraumeni syndrome
Prostate cancer
Lung cancer
Colon cancer
Ovarian cancer
Lung cancer
Anal cancer
Epithelial ovarian cancer
2, 47
2, 38
2, 50
2, 51
2, 53
2, 54, 55
56, 57
58, 59
ELAC2
2, 62, 63
EPCAM
Lynch syndrome
HRAS1
Breast cancer
2, 150
KRAS
Pancreatic cancer
Lung cancer
Colorectal cancer
2, 74, 75
2, 76
2, 77
MLH1
Lynch syndrome
Endometrial cancer
Ovarian cancer
1, 2, 79, 82
1, 80
1, 81
MRE11A
MSH2
2, 151
1, 2, 88, 89
MSH6
Lynch syndrome
1, 2, 88, 89
MUTYH
NBN
2, 95, 96
2, 99
2, 100
2, 101
2, 102
PALB2
Breast cancer
PMS2
Lynch syndrome
1, 2, 88, 89
PTCH1
Gorlin syndrome
Breast cancer
Colon cancer
2, 101, 111
2, 110
2, 110
2, 65, 66
PTEN
Cowden syndrome
Prostate cancer
Endometrial cancer
Melanoma
Breast cancer!
Breast-ovarian cancer
1, 2, 113
2, 116
2, 117
2, 120
2, 121, 122
2, 123, 124
RET
1, 2, 129
SMAD4
1, 2, 134
2, 136
2, 137
2, 139
2, 140
2, 141
1, 2, 142
1, 2, 144
2, 145
RAD50
RAD51C
STK11
TP53
References
1. http://www.informeddna.com/index.php
2. http://ghr.nlm.nih.gov/
3. Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a
patient with polyposis. Shirts BH et al. Genet Med. 2014 Mar 27
4. Parallel states of pathological Wnt signaling in neonatal brain injury and colon cancer. Fancy SP
et al. Nat Neurosci. 2014 Apr;17(4):506-12.
5. The APC Gene in Turcot's Syndrome. N Engl J Med 1995; 333:524. August 24, 1995.
6. http://www.cancer.net/cancer-types/gardner-syndrome
7. Mutation analysis of APC gene in gastric cancer with microsatellite instability. Fang DC. World J
Gastroenterol. 2002 Oct;8(5):787-91.
8. Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families. Sandoval n et al.
Hum. Mol. Genet. (1999) 8 (1): 69-79.
9. http://www.cancer.gov/cancertopics/factsheet/Risk/ataxia
10. Rare variants in the ATM gene and risk of breast cancer. Goldgar ED. Breast Cancer Research
2011, 13:R73
11. Alteration of the ATM gene occurs in gastric cancer cell lines and primary tumors associated with
cellular response to DNA damage. Zhang L et al. Mutation Research/Genetic Toxicology and
Environmental Mutagenesis. Volume 557, Issue 1, 10 January 2004, Pages 4151.
12. Genistein sensitizes bladder cancer cells to HCPT treatment in vitro and in vivo via ATM/NFB/IKK pathway-induced apoptosis. Wang Y et al. PLoS One. 2013;8(1):e50175.
13. ATM mutations in patients with hereditary pancreatic cancer. Robert NJ et al. Cancer Discov.
2012 Jan;2(1):41-6.
14. ATM polymorphisms and risk of lung cancer among never smokers. Lo YL et al. Lung Cancer.
2010 Aug;69(2):148-54.
15. Contributions of ATM mutations to familial breast and ovarian cancer. Thorstenson YR et al.
Cancer Res. 2003 Jun 15;63(12):3325-33.
16. Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in
hereditary susceptibility to breast cancer. Karppinen S-M et al. J Med Genet 2004;41:e114.
17. http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome
18. BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair
deficiency. Nieminen TT. Gastroenterology. 2011 Jul;141(1):e23-6.
19. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes:
molecular diversity and associated phenotypic spectrum. Sarkozy A. Hum Mutat. 2009
Apr;30(4):695-702.
20. https://www.inkling.com/read/jones-smiths-recognizable-patterns-human-malformation7th/chapter-1q/multiple-lentigines-syndrome
21. http://www.cancer.gov/cancertopics/pdq/treatment/lchistio/HealthProfessional/page3
22. Erdheim-Chester Disease Harboring the BRAF V600E Mutation. Blombery P et al. JCO
November 10, 2012 vol. 30 no. 32 e331-e332.
23. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
24. http://cancer.stanford.edu/information/geneticsAndCancer/types/herbocs.html
25. Breast Cancer Risk Among Male BRCA1 and BRCA2 Mutation Carriers. Tai YC et al. JNCI J Natl
Cancer Inst (2007) 99 (23): 1811-1814.
26. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women
with a BRCA1 or BRCA2 mutation.Finch A, Beiner M, Lubinski J, et al. JAMA 2006; 296(2):185
192.
27. Cancer risks among BRCA1 and BRCA2 mutation carriers. Levy-Lahad E, Friedman E. British
Journal of Cancer 2007; 96(1):1115.
28. BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. Ferrone CR,
Levine DA, Tang LH, et al. Journal of Clinical Oncology 2009; 27(3):433438.
29. The Fanconi anaemia/BRCA pathway. D'Andrea AD et al. Nat Rev Cancer. 2003 Jan;3(1):23-34.
30. Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. Garcia-Higuera I
et al. Mol Cell. 2001 Feb;7(2):249-62.
31. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Xia B et al. Nature
Genetics 39, 159 - 161 (2006).
32. http://emedicine.medscape.com/article/960401-overview
33. http://www.skincancer.org/skin-cancer-information/melanoma/breast-cancer-melanoma-link
34. A Novel Breast CancerAssociated BRIP1 (FANCJ/BACH1) Germ-line Mutation Impairs Protein
Stability and Function. Nicolo AD et al. Clin Cancer Res July 15, 2008 14; 4672.
35. http://www.ncbi.nlm.nih.gov/books/NBK1401/
36. http://cancer.stanford.edu/patient_care/services/geneticCounseling/HDGC.html
37. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal
cancer. Richards FM et al. Hum Mol Genet. 1999 Apr;8(4):607-10.
38. Association between E-cadherin (CDH1) polymorphisms and papillary thyroid carcinoma risk in
Han Chinese population. Wang YX et al. Endocrine. 2012 Jun;41(3):526-31.
39. http://www.genecards.org/cgi-bin/carddisp.pl?gene=CDH1
40. The E-cadherin (CDH1) 160 C/A polymorphism and prostate cancer risk: a meta-analysis. Qiu
LX et al. Eur J Hum Genet. Feb 2009; 17(2): 244249.
41. 16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular
breast cancer. Palka Bayard de Volo C et al. Gene. 2012 May 1;498(2):328-31.
42. http://www.cancercommons.org/patients-caregivers/melanoma/cdk4/
43. http://omim.org/entry/155601
44. http://omim.org/entry/155755
45. http://omim.org/entry/606719
46. http://www.cancer.gov/cancertopics/genetics/breast/CHEK2gene
47. Chapter 22: Li-Fraumeni Syndrome, including Li-Fraumeni-Like Syndrome. Concise Handbook of
Familial Cancer Syndromes, Second Edition. Journal of the National Cancer Institute
Monographs, No. 38, 2008, pp 48-50.
48. Mutations in CHEK2 Associated with Prostate Cancer Risk. Dong X et al. Am J Hum Genet. Feb
2003; 72(2): 270280. Published online Jan 17, 2003.
49. The CHEK2 gene and inherited breast cancer susceptibility. Nevanlinna H et al. Oncogene
(2006) 25, 59125919. doi:10.1038/sj.onc.1209877.
50. CHEK2*1100delC homozygosity in the Netherlandsprevalence and risk of breast and lung
cancer. Huijts P EA et al. European Journal of Human Genetics (2014) 22, 4651.
51. Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and
truncating mutations? Cybulski C et al. European Journal of Human Genetics (2007) 15, 237
241.
52. CHEK2 Is a Multiorgan Cancer Susceptibility Gene. Cybulski C et al. Cybulski C et al. Am J Hum
Genet. Dec 2004; 75(6): 11311135.
53. http://www.familialcancerdatabase.nl/loggedin/syndromedetails.aspx?enc=5Hs6oRA2n56PTbnlB
8c7BaW5I8NWyEa+J20dPdOnUMef2UNFhFljUMeFKIT7HXSM
54. EGFR mutations and lung cancer. da Cunha Santos G et al. Annu Rev Pathol. 2011;6:49-69.
55. http://www.cancer.net/research-and-advocacy/asco-care-and-treatment-recommendationspatients/epidermal-growth-factor-receptor-egfr-testing-advanced-non-small-cell-lung-cancer
56. EGFR, KRAS, BRAF, and PIK3CA characterization in squamous cell anal cancer. EGFR, KRAS,
BRAF, and PIK3CA characterization in squamous cell anal cancer. Martin V et al. Histol
Histopathol. 2013 Oct 14.
57. The Role of EGFR Inhibitors in the Treatment of Metastatic Anal Canal Carcinoma: A Case
Series. Muhammad W. Saif et al. Journal of Oncology Volume 2011 (2011), Article ID 125467, 5
58.
59.
60.
61.
62.
63.
64.
65.
66.
67.
68.
69.
70.
71.
72.
73.
74.
75.
76.
77.
78.
79.
80.
81.
pages
http://dx.doi.org/10.1155/2011/125467
The therapeutic potential of targeting the EGFR family in epithelial ovarian cancer. Sheng Q et al.
Br J Cancer. 2011 Apr 12;104(8):1241-5.
Targeting the Epidermal Growth Factor Receptor in Epithelial Ovarian Cancer: Current
Knowledge and Future Challenges. Siwak DR et al. Journal of Oncology, Volume 2010 (2010),
Article ID 568938, 20 pages. http://dx.doi.org/10.1155/2010/568938
Targeting EGFR for treatment of glioblastoma: molecular basis to overcome resistance. Taylor
TE. Curr Cancer Drug Targets. 2012 Mar;12(3):197-209.
Prognostic effect of epidermal growth factor receptor and EGFRvIII in glioblastoma multiforme
patients. Heimberger AB. Clin Cancer Res. 2005 Feb 15;11(4):1462-6.
Meta-analysis of associations of the ser217-to-leu and ala541-to-thr variants in ELAC2 (HPC2)
and prostate cancer. Camp NJ et al. Am. J. Hum. Genet. 71: 1475-1478, 2002.
Association of HPC2/ELAC2 genotypes and prostate cancer. Rebbeck TR et al. Am. J. Hum.
Genet. 67: 1014-1019, 2000.
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic
cardiomyopathy. Haack TB et al. Am. J. Hum. Genet. 93: 211-223, 2013.
EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients. EPCAM
deletion carriers constitute a unique subgroup of Lynch syndrome patients. Ligtenberg MJ et al.
Fam Cancer. 2013 Jun;12(2):169-74.
http://www.lynchcancers.com/index.php/genetic-testing
Intractable infant diarrhea with epithelial dysplasia associated with polymalformation. Abely M et
al. J. Pediat. Gastroent. Nutr. 27: 348-352, 1998.
Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM
gene mutation. Al-Mayouf SM et al. J. Pediat. Gastroent. Nutr. 49: 642-644, 2009.
http://medical-dictionary.thefreedictionary.com/HRAS1
HRAS1 variable number of tandem repeats polymorphism and risk of bladder cancer. van Gils
CH et al. Int J Cancer. 2002 Aug 1;100(4):414-8.
http://books.google.com/books?id=yYs2FvAUyQYC&pg=RA2-PA1796&lpg=RA2PA1796&dq=HRAS1+and+Bladder+cancer&source=bl&ots=n5x6pd4rSn&sig=53sMuAp7hYJdNv
Lp6NtbvnbxUQo&hl=en&sa=X&ei=l3g9U5eKG4ipsQTxy4HgBQ&ved=0CEUQ6AEwAw#v=onepa
ge&q=HRAS1%20and%20Bladder%20cancer&f=false
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Niihori T net al. Nat
Genet. 2006 Mar;38(3):294-6.
http://www.openingautism.com/Genetics/MarkerDetails/16
Roles for KRAS in pancreatic tumor development and progression. di Magliano MP et al.
Gastroenterology. 2013 Jun;144(6):1220-9.
http://www.pnas.org/content/110/51/20723.short?rss=1
KRAS Mutations in NonSmall Cell Lung Cancer. Riely GJ et al. Proceedings of the American
Thoracic Society, Vol. 6, No. 2 (2009), pp. 201-205.
http://emedicine.medscape.com/article/1690010-overview
Core-binding factor acute myeloid leukemia: can we improve on HiDAC consolidation? Paschka
P et al. ASH Education Book December 6, 2013 vol. 2013 no. 1 209-219.
http://chromium.liacs.nl/LOVD2/colon_cancer/home.php?select_db=MLH1
Molecular characterization of endometrial cancer: a correlative study assessing microsatellite
instability, MLH1 hypermethylation, DNA mismatch repair protein expression, and PTEN,
PIK3CA, KRAS, and BRAF mutation analysis. Peterson LM. Int J Gynecol Pathol. 2012
May;31(3):195-205.
Analysis of MLH1 and MSH2 expression in ovarian cancer before and after platinum drug-based
chemotherapy. Samimi G et al. Clin Cancer Res. 2000 Apr;6(4):1415-21.
82. Phenotype Comparison of MLH1 and MSH2 Mutation Carriers in a Cohort of 1,914 Individuals
Undergoing Clinical Genetic Testing in the United States. Kastrinos F et al. Cancer Epidemiol
Biomarkers Prev August 2008 17; 2044.
83. http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/83191
84. Methylation of the MLH1 gene in hematological malignancies. Matsushita M. Oncol Rep. 2005
Jul;14(1):191-4.
85. Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
Ricciardone MD et al. Cancer Res. 1999 Jan 15;59(2):290-3.
86. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxiatelangiectasia -like disorder. Delia D et al. Hum. Molec. Genet. 13: 2155-2163, 2004.
87. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian
patients with the ataxia telangiectasia-like disorder. Farnet M et al. Hum. Molec. Genet. 14: 307318, 2005.
88. http://www.cancer.net/cancer-types/lynch-syndrome
89. http://www.fightlynch.org/physician.php
90. http://www.cancer.net/cancer-types/muir-torre-syndrome
91. Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness.
Tischkowitz M et al. British Journal of Cancer (2006) 95, 243244.
92. Constitutional mismatch repair deficiency and childhood leukemia/lymphoma--report on a novel
biallelic MSH6 mutation. Ripperger T et al. Haematologica. 2010 May;95(5):841-4.
93. Compound heterozygosity for MSH6 mutations in a pediatric lymphoma patient. Peters A. J
Pediatr Hematol Oncol. 2009 Feb;31(2):113-5.
94. A homozygous MSH6 mutation in a child with caf-au-lait spots, oligodendroglioma and rectal
cancer. Menko FH et al. Fam Cancer. 2004;3(2):123-7.
95. http://www.uptodate.com/contents/familial-adenomatous-polyposis-and-mutyh-associatedpolyposis-screening-and-management-of-patients-and-families
96. The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP).
Claes K et al. Acta Gastroenterol Belg. 2011 Sep;74(3):421-6.
97. http://www.ncbi.nlm.nih.gov/books/NBK1176/
98. http://preventiongenetics.com/clinical-dna-testing/test/nijmegen-breakage-syndrome-via-the-nbngene/1351/
99. Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French
Canadian families with high risk of breast cancer. Desjardins S et al. BMC Cancer 2009, 9:181.
100.
An inherited NBN mutation is associated with poor prognosis prostate cancer. Cybulski C
et al. Br J Cancer. 2013 Feb 5;108(2):461-8.
101.
http://www.pnas.org/content/108/44/18032.full
102.
Molecular genetic analysis of NBS1 in German melanoma patients. Meyer P et al.
Melanoma Res. 2007 Apr;17(2):109-16.
103.
Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia. Mosor
M et al. BMC Cancer. 2013 Oct 5;13:457.
104.
http://www.cityofhope.org/Breast_Cancer_Susceptibility_MDL
105.
https://www.ambrygen.com/tests/palb2-related-cancer
106.
A PALB2 Mutation Associated with High Risk of Breast Cancer. Southey MC et al. Breast
Cancer Res. 2011;12(6):R109.
107.
http://www.ncbi.nlm.nih.gov/books/NBK1401/
108.
PMS2 mutations in childhood cancer. De Vos M et al. J Natl Cancer Inst. 2006 Mar
1;98(5):358-61
109.
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1)
patients. Titze S et al. Eur J Hum Genet. 2010 Jan;18(1):81-7.
110.
https://www.ambrygen.com/tests/ptch1nevoid-basal-cell-carcinoma-syndrome
111.
Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Muzio LL. Orphanet Journal of
Rare Diseases 2008, 3:32.
112.
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and
SUFU mutations to sporadic medulloblastoma. Slade I et al. Fam Cancer. 2011 Jun;10(2):337-42.
113.
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-RileyRuvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome. Marsh DJ et al. Hum.
Mol. Genet. (1999) 8 (8): 1461-1472.
114.
Germline mutation of the tumour suppressor PTEN in Proteus syndrome. Smith JM et al.
J Med Genet 2002;39:937-940 doi:10.1136/jmg.39.12.937.
115.
http://ambrygen.com/tests/pten-related-disorders-including-autism-spectrum-disorder
116.
Role of PTEN gene in progression of prostate cancer. Pourmand G et al. Urol J. 2007
Spring;4(2):95-100.
117.
PTEN mutation in endometrial cancers is associated with favorable clinical and
pathologic characteristics. Risinger JI et al. Clin Cancer Res December 1998 4; 3005.
118.
http://www.nih.gov/news/pr/nov2005/ninds-09.htm
119.
p53 and PTEN gene mutations in gemistocytic astrocytomas. Watanabe K et al. Acta
Neuropathol. 1998 Jun;95(6):559-64.
120.
Identification of PTEN mutations in metastatic melanoma specimens. Celebi JT et al. J
Med Genet. Sep 2000; 37(9): 653657.
121.
https://genomeinterpretation.org/content/rad50
122.
Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in
high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.
Kuusisto KM et al. Breast Cancer Research 2011, 13:R20.
123.
Germline RAD51C mutations confer susceptibility to ovarian cancer. Loveday C et al.
Nature Genet. 44: 475-476, 2012.
124.
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a
human cancer susceptibility gene. Meindl A et al. Nature Genet. 42: 410-414, 2010.
125.
Fanconi anemia: at the crossroads of DNA repair. Deakyne JS et al. Biochemistry 76: 3648, 2011.
126.
Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Vaz F et al. Nature
Genet. 42: 406-409, 2010.
127.
https://www.ambrygen.com/tests/ret-related-hirschsprung-disease
128.
Hirschsprung Disease in MEN 2A: Increased Spectrum of RET Exon 10 Genotypes and
Strong GenotypePhenotype Correlation. Decker RA et al. Hum. Mol. Genet. (1998) 7 (1): 129134.
129.
http://www.cancer.net/cancer-types/multiple-endocrine-neoplasia-type-2
130.
Genetic mutation screening in an italian cohort of nonsyndromic
pheochromocytoma/paraganglioma patients. Castellano M et al. Ann N Y Acad Sci. 2006
Aug;1073:156-65.
131.
RET expression in papillary thyroid cancer from patients irradiated in childhood for benign
conditions. Collins BJ et al. J Clin Endocrinol Metab. 2002 Aug;87(8):3941-6.
132.
http://emedicine.medscape.com/article/1744824-overview
133.
SMAD4 mutations found in unselected HHT patients. Gallione CJ et al. J Med Genet.
2006 Oct;43(10):793-7.
134.
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a
minority of cases. Houlston R et al. Hum. Mol. Genet. (1998) 7 (12): 1907-1912.
135.
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies
Myhre Syndrome. Caputo V et al. AJHG Volume 90, Issue 1, p161169, 13 January 2012.
136.
http://www.mycancergenome.org/content/disease/colorectal-cancer/smad4
137.
The SMAD4 Protein and Prognosis of Pancreatic Ductal Adenocarcinoma. Tascilar M et
al. Clin Cancer Res December 2001 7; 4115.
138.
Germline and somatic mutations of the STK11/LKB1 Peutz-Jeghers gene in pancreatic
and biliary cancers. Su GH et al. Am J Pathol. 1999 Jun;154(6):1835-40.
139.
Germline mutation screening of the STK11/LKB1 gene in familial breast cancer with LOH
on 19p. Chen J et al. Clin Genet. 2000 May;57(5):394-7.
140.
LKB1 inactivation dictates therapeutic response of non-small cell lung cancer to the
metabolism drug phenformin. Shackelford DB et al. Cancer Cell. 2013 Feb 11;23(2):143-58.
141.
LKB1/STK11 inactivation leads to expansion of a prometastatic tumor subpopulation in
melanoma. Liu W et al. Cancer Cell. 2012 Jun 12;21(6):751-64.
142.
http://www.cancerresearchuk.org/cancer-help/type/breast-cancer/about/risks/breastcancer-genes
143.
TP53 gene mutations as an independent marker for urinary bladder cancer progression.
Ecke TH et al. Int J Mol Med. 2008 May;21(5):655-61.
144.
http://www.cancer.net/cancer-types/li-fraumeni-syndrome
145.
TP53 mutation in colorectal cancer. Iacopetta B. Hum Mutat. 2003 Mar;21(3):271-6.
146.
Germ-line genetic variation of TP53 in osteosarcoma. Savage SA et al. Pediatr Blood
Cancer. 2007 Jul;49(1):28-33.
147.
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. Hettmer S et al.
Cancer. 2014 Apr 1;120(7):1068-75.
148.
TP53 germline mutations in adult patients with adrenocortical carcinoma. Herrmann LJ et
al. J Clin Endocrinol Metab. 2012 Mar;97(3):E476-85.
149.
Tagging single-nucleotide polymorphisms in candidate oncogenes and susceptibility to
ovarian cancer. Quaye, L; Song, H; Ramus, SJ; Gentry-Maharaj, A; Hogdall, E; DiCioccio, RA.
Ovarian Canc Assoc Consortium, 2009
150. Cancer Epidemiol Biomarkers Prev. 2003 Dec;12(12):1528-30.The HRAS1 variable number of
tandem repeats and risk of breast cancer.Tamimi RM, Hankinson SE, Ding S, Gagalang V, Larson
GP, Spiegelman D, Colditz GA, Krontiris TG, Hunter DJ.
151. Folkins, A., Longacre, T. (2013). Hereditary gynecological malignancies: advances in screening
and treatment. Histopathology,62:2-30.
TM
GeneID
www.PREVENTESTS.com
TM
BREAST CANCER
Genetic Mutations
Dense breast tissue
GeneID
OVARIAN CANCER
COLORECTAL CANCER
PANCREATIC CANCER
generation to generation.
FACTORS THAT MAY INCREASE YOUR
RISK OF COLON CANCER INCLUDE:
Genetic Mutations
Diabetes
Various Medications
PROSTATE CANCER
ENDOMETRIAL CANCER
cancer is hereditary.
FACTORS THAT MAY INCREASE YOUR
RISK OF ENDOMETRIAL CANCER
INCLUDE:
Obesity
Obesity
Increased Screenings
Diabetes
Genetic Mutations
Increasing age
cancer
GeneID
GASTRIC CANCER
cancers
FACTORS THAT MAY INCREASE YOUR
RISK OF GASTRIC CANCER INCLUDE:
Genetic Mutations
SKIN CANCER
WHAT IS THE TESTING PROCEDURE?
FACTORS THAT MAY INCREASE YOUR
RISK OF SKIN CANCER INCLUDE:
GeneID
GeneID
TM
!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
!
Phone:!(407)!739/6158!
!
!
!
Fax:!(877)!888/0384!
Email!to:!!JmaMedical@outlook.com!
!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!
New!Client!Form!
Client!Information_______________________________________________________________!!!!
__________________________________!
Facility!Name!
!
_____________________________________________________________________________________________!
Address!
_____________________________________________________________________________________________!
City,!State,!Zip!!
______________________________________________________________________________!!!!!
Phone!Number! !
!
!
!
!
!
!
HIPPA!Fax!Number!
!
_____________________________________________________________________________________________!
Primary!Contact!Name!&!Title!(to!contact!if!needed)!
!
_____________________________________________________________________________________________!
Physician!Name! !
!
!
!
NPI#! !
!
!
!
Email!
!
_____________________________________________________________________________________________!
Physician!Name! !
!
!
!
NPI#! !
!
!
!
Email!
!
_____________________________________________________________________________________________!
Physician!Name! !
!
!
!
NPI#! !
!
!
!
Email!
!
_____________________________________________________________________________________________!
Physician!Name! !
!
!
!
NPI#! !
!
!
!
Email!
!
_____________________________________________________________________________________________!
Sales!Representative!Name!
!
!
!
!
!
!
!
_____________________________________________________________________________________________!
Rep!Phone!Number!
!
!
!
!
!
!
Rep!E/mail!
!
!
!
!
!
!
!
!
!
!
!
!
!
_____________________________________________________________________________________________!
!
!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!