Journal
CLINICAL OBSTETRICS AND GYNECOLOGY
Volume 60, Issue 4, Pages 728-737Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/GRF.0000000000000319
Keywords
genotype-phenotype correlations; hereditary; germline; ovarian carcinoma; risk reduction
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Cancer is a disease of the genome, in which mutations in particular genes and pathways give rise to tissue-specific genotype-phenotype correlations. In tumors associated with hereditary cancer syndromes, a person is generally born with the first mutation relevant to the development of their cancer. In this chapter we will discuss the genes that have been associated with germline mutations that confer a moderate to high risk for ovarian carcinoma.
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