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abstract
Keywords
- precision medicine;
- ovarian cancer;
- uterine cancer;
- BRCA;
- Lynch syndrome;
- risk-reduction
Highlights
- •
- Hereditary cancer syndromes are an important precision medicine opportunity.
- •
- Homologous recombination mutations including BRCA contribute to ovarian cancer.
- •
- DNA mismatch repair defects increase risk for both ovarian and uterine cancers.
- •
- Risks can be significantly reduced with prophylactic surgery or surveillance.
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- These mutations can predict response to novel molecular therapies.
Abstract
Salient
to the intent of personalized medicine, hereditary cancer syndromes
present significant opportunities in the treatment and prevention of
some gynecologic cancers. Mutations in BRCA1, BRCA2, and DNA mismatch repair genes: MLH1, MSH2, MSH6, and PMS2
are important causal agents in hereditary breast and ovarian cancer
(HBOC) and Lynch syndromes. Though they only account for an estimated
10-18% of ovarian, tubal, peritoneal, and endometrial cancer cases,
inherited cancers are imminently preventable if mutation carriers are
identified in a timely manner. Population level screening is currently
impractical due to low prevalence of disease, cost of testing, and
ethical issues associated with testing, so diagnosis of these mutations
is limited. Being affected by one of the heritable gynecologic
malignancies is a logical entry point into the genetic counseling and
testing pipeline for the patient and her family members. Thus,
gynecologic cancer providers are uniquely positioned to diagnose
germline mutations that can inform prognosis and treatment for their
patients in addition to enabling prevention for patients’
cancer-unaffected blood relatives, or “previvors”. The purpose of this
review is to describe our current perspective on testing for and
implications of heritable cancer syndromes in the women with ovarian,
tubal, peritoneal, and endometrial cancers.
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