Gynaecological neoplasms in common familial syndromes (Lynch and HBOC)

Pathology
Carla BartoschTjalling Bosse

Abstract

Recognising hereditary predisposition in a cancer patient has implications both for the patient and the patient's kindred. For the latter, cascade germline testing can reassure those not-at-risk family members while carriers can be enrolled in cancer screening and prevention programs that are medically effective and economically sustainable for health care systems. Furthermore, in many of these syndromes, ramifications of molecular phenotypes are increasing, and it is now emerging that, in addition, they convey prognostic and predictive information. Although cancer predisposition syndromes are rare, these molecular phenotypes also occur as somatic events in sporadic cancer settings. The information obtained from these molecular phenotypes, regardless of germline or somatic origin, is being incorporated into clinical management in view of their manifold significance. Thus, increasingly, bespoke management of cancer patients involves testing for both germline and somatic mutations in tumours. Lynch syndrome and BRCA-1 and BRCA-2-associated hereditary breast and ovarian cancer are hereditary cancer syndromes frequently involving the gynaecological tract but tumours associated with similar molecular alterations may also occur spora...Continue Reading

Citations

Aug 2, 2019·Advances in Anatomic Pathology·Yuichiro HatanoAkira Hara
Feb 6, 2020·Journal of Clinical Medicine·Elena Laura MazzoldiStefano Indraccolo
Nov 21, 2019·Abdominal Radiology·Abdelrahman K HanafyAjaykumar C Morani
Sep 6, 2019·JCO Clinical Cancer Informatics·Andrea N Burnett-HartmanChristine Y Lu
Oct 30, 2020·Frontiers in Oncology·Anjelica Hodgson, Gulisa Turashvili
Dec 24, 2020·Clinical Radiology·K P ShanbhogueA C Morani

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