The biological effects and clinical implications of BRCA mutations: where do we go from here?

D Stoppa-Lyonnet - European Journal of Human Genetics, 2016 - nature.com
BRCA1 and BRCA2 are tumour-suppressor genes encoding proteins that are essential for
the repair of DNA double-strand breaks by homologous recombination (HR). Cells that lack …

The role of BRCA status on the prognosis of patients with epithelial ovarian cancer: a systematic review of the literature with a meta-analysis

C Sun, N Li, D Ding, D Weng, L Meng, G Chen, D Ma - PloS one, 2014 - journals.plos.org
Objective The role of BRCA dysfunction on the prognosis of patients with epithelial ovarian
cancer (EOCs) remains controversial. This systematic review tried to assess the role of …

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions

ML Murray, F Cerrato, RL Bennett, GP Jarvik - Genetics in Medicine, 2011 - nature.com
Purpose: Approximately 5–10% of patients who undergo genetic testing of BRCA1 and
BRCA2 receive a variant of unknown significance (VUS) result. The ambiguous nature of a …

Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer

A Hirasawa, I Imoto, T Naruto, T Akahane… - …, 2017 - pmc.ncbi.nlm.nih.gov
Pathogenic germline BRCA1, BRCA2 (BRCA1/2), and several other gene variants
predispose women to primary ovarian, fallopian tube, and peritoneal carcinoma (OC) …

BRCA‐associated ovarian cancer: from molecular genetics to risk management

G Girolimetti, AM Perrone, D Santini… - BioMed research …, 2014 - Wiley Online Library
Ovarian cancer (OC) mostly arises sporadically, but a fraction of cases are associated with
mutations in BRCA1 and BRCA2 genes. The presence of a BRCA mutation in OC patients …

Epithelial ovarian, fallopian tube, and peritoneal cancer

JS Berek, ML Friedlander… - Holland‐Frei Cancer …, 2016 - Wiley Online Library
Overview Ovarian cancer is one of the most treatable solid tumors, as the majority will
respond temporarily to surgery and cytotoxic agents. The disease, however, frequently …

Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review

DM Eccles, J Balmana, J Clune, B Ehlken, A Gohlke… - Advances in …, 2016 - Springer
Introduction One of the most significant risk factors for the development of ovarian cancer
(OC) is a genetic mutation in BRCA1 (breast cancer gene 1) or BRCA2. Here we describe …

Spectrum and prevalence of pathogenic variants in ovarian cancer susceptibility genes in a group of 333 patients

M Koczkowska, N Krawczynska, M Stukan… - Cancers, 2018 - mdpi.com
Constitutional loss-of-function pathogenic variants in the tumor suppressor genes BRCA1
and BRCA2 are widely associated with an elevated risk of ovarian cancer (OC). As only …

[HTML][HTML] Survival and chemosensitivity in advanced high grade serous epithelial ovarian cancer patients with and without a BRCA germline mutation: more evidence …

D De Jong, M Otify, I Chen, D Jackson, K Jayasinghe… - Medicina, 2022 - mdpi.com
Background and Objectives: Approximately 10–15% of high-grade serous ovarian cancer
(HGSOC) cases are related to BRCA germline mutations. Better survival rates and increased …

Detection of somatic BRCA1/2 mutations in ovarian cancer – next‐generation sequencing analysis of 100 cases

M Koczkowska, M Zuk, A Gorczynski… - Cancer …, 2016 - Wiley Online Library
The overall prevalence of germline BRCA 1/2 mutations is estimated between 11% and 15%
of all ovarian cancers. Individuals with germline BRCA 1/2 alterations treated with the PARP …