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Chapter 3 - Hereditary Gynecologic Cancer Predisposition Syndromes

Published online by Cambridge University Press:  23 October 2024

By
Molly S. Daniels ,
Denise R. Nebgen  and
Neil Ryan
Edited by
Laurie J. Mckenzie  and
Denise R. Nebgen
Laurie J. Mckenzie
Affiliation:
University of Texas MD Anderson Cancer Center, Houston
Denise R. Nebgen
Affiliation:
University of Texas MD Anderson Cancer Center, Houston
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Summary

A small but important fraction of cancer are primarily due to a hereditary cancer predisposition, and their diagnosis has significant clinical implications for both index cases and their families. Germline BRCA1BRCA/2 pathogenic variants (PVs) can lead to the Hereditary Breast and Ovarian Cancer (HBOC) Syndrome and identification of both germline and somatic BRCA1/BRCA2 PVs have important treatment implications. In addition, endometrial cancer is closely associated with inherited PVs in the mismatch repair (MMR) genes which leads to Lynch syndrome. Both HBOC and Lynch syndrome affect around 1:300 people, most of whom are undiagnosed. Genetic panel testing is crucial to identifying PV carriers, before a sentinel cancer, who can then be offered prophylactic interventions such as risk reducing salpingo-oophorectomy (RRSO). Within this chapter we discuss the most common hereditary cancer syndromes associated with gynecological cancer. These include HBOC, Lynch syndrome, the moderate penetrant genes including RAD51C, RAD51D, BRIP1, PALB2, and ATM as well as rarer hereditary cancer syndromes including Cowden syndrome (PTEN), DICER1, Rhabdoid Tumor Predisposition syndrome (SMARCB1, SMARCA4) and Peutz-Jeghers syndrome (STK11).

Keywords

Hereditary cancer syndromesLynch syndromeBRCA1BRCA2genetic panel testingrisk reducing salpingo-oophorectomyRRSORAD51CRAD51DBRIP1PALB2
Type
Chapter
Information
Caring for the Female Cancer Patient
Gynecologic Considerations
 , pp. 38 - 59
Publisher: Cambridge University Press
Print publication year: 2024

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