This document discusses different types of genetic testing that may be recommended for patients with gynecologic cancers. It covers BRCA1 and BRCA2 testing, panels that check multiple high-risk cancer genes, and biomarker testing of tumor tissue. For those with a family history or personal diagnosis of breast, ovarian, uterine, or other cancers, genetic counseling can help determine the appropriate tests and manage risk if a mutation is found. Positive genetic results may qualify patients for increased cancer screening or risk-reducing surgeries, and can provide information about treatment options. The importance of genetic counseling prior to testing is also emphasized.

1. The Ins and Outs of Testing for Patients with Gynecologic Cancer
Peggy Cottrell, MS, CGC, Genetics Program Manager
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GENETICS AND “GENOMICS”:

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WHAT KIND OF GENETIC TESTING?
• Genetic testing for
hereditary cancer
• Biomarker testing of
the tumor to determine
targeted treatment
• We might be looking for
the same genes in each
case

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BRCA1 AND BRCA2 CARRIERS
• BRCA1 and BRCA2 mutations
occur in all populations
• Men are just as likely to carry
mutations as women
• Ashkenazi Jewish individuals
have a higher risk; 1 in 40

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• Those diagnosed with breast (especially under
50 or triple negative), ovarian, pancreatic, male
breast, prostate (especially for high Gleason
score), colon (under 50), uterine (under 50)
• Family history increases concern
• Ashkenazi Jewish ancestry increases
concern
• Unaffected individuals with a family history of
cancer, such as breast, ovarian, prostate,
pancreatic, colon, uterine, melanoma or male
breast cancer
WHO SHOULD THINK ABOUT GENETIC TESTING?

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• Most current testing is done as a
panel
• Other genes may predispose to
breast, ovarian, uterine, colon,
pancreatic, prostate, melanoma,
stomach, and other cancers
• Some genes predisposing to
gynecologic cancer include ATM,
BRIP1, PALB2, PTEN, RAD51C,
RAD51D, TP53, and genes
associated with Lynch syndrome
HOW IS GENETIC TESTING DONE?

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HOW IS GENETIC TESTING DONE?
• Founder mutations in the
Ashkenazi Jewish population
• PCR sequencing
• Duplication and deletion testing
• Next Generation Sequencing
• Panels

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HIGH RISK SCREENING PROGRAMS
• Individuals who test positively for
some gene mutations will qualify for
high risk screening
• Breast cancer – annual breast MRI
• Colon cancer – annual colonoscopy
• Uterine cancer – annual transvaginal
ultrasound
• Pancreatic cancer – endoscopic
ultrasound and MRCP
• This leads to identification of cancer
at earlier stage

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RISK REDUCING SURGERY:
Reduce the chance of ever developing cancer
• Breast
• Bilateral mastectomy before
cancer diagnosis
• Breast reconstruction
• Ovarian
• Bilateral salpingo-oophorectomy
(ovaries and tubes)
• May consider hysterectomy
• Uterine
• Hysterectomy

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UTILITY OF RESULTS FOR THOSE ALREADY DIAGNOSED
• Positive results help determine
the meaning of negative
results for other family
members
• Those diagnosed with one
type of cancer may be at risk
for another type of cancer
• May be eligible for the use of a
targeted medication like a parp
inhibitor or immunotherapy

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IMPORTANCE OF HAVING GENETIC COUNSELING
• Understanding the pros
and cons of testing
• Ordering the correct
test for your personal
risk and insurance
network
• Explain options for
mutation carriers

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SHARSHERET GENETICS RESOURCES

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866.474.2774
www.sharsheret.org
pcottrell@sharsheret.org