Mutations in BRIP1 confer high risk of ovarian cancer

T Rafnar, DF Gudbjartsson, P Sulem, A Jonasdottir… - Nature …, 2011 - nature.com
Ovarian cancer causes more deaths than any other gynecologic malignancy in developed
countries. Sixteen million sequence variants, identified through whole-genome sequencing …

Rare BRIP1 Missense Alleles Confer Risk for Ovarian and Breast Cancer

CL Moyer, J Ivanovich, JL Gillespie, R Doberstein… - Cancer research, 2020 - AACR
Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1
(BRIP1) are associated with ovarian carcinoma and may also contribute to breast cancer …

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

SJ Ramus, H Song, E Dicks, JP Tyrer… - Journal of the …, 2015 - academic.oup.com
Background: Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy,
responsible for 13 000 deaths per year in the United States. Risk prediction based on …

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

N Weber-Lassalle, J Hauke, J Ramser, L Richters… - Breast Cancer …, 2018 - Springer
Background Germline mutations in the BRIP1 gene have been described as conferring a
moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) …

BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a …

M Suszynska, M Ratajska, P Kozlowski - Journal of ovarian research, 2020 - Springer
Background It is estimated that more than 20% of ovarian cancer cases are associated with
a genetic predisposition that is only partially explained by germline mutations in the BRCA1 …

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

DF Easton, F Lesueur, B Decker… - Journal of medical …, 2016 - jmg.bmj.com
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi
Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations …

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

S Seal, D Thompson, A Renwick, A Elliott, P Kelly… - Nature …, 2006 - nature.com
We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in
9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation–negative families but …

[HTML][HTML] Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2

LE Minion, JS Dolinsky, DM Chase, CL Dunlop… - Gynecologic …, 2015 - Elsevier
Objective Genetic predisposition to ovarian cancer is well documented. With the advent of
next generation sequencing, hereditary panel testing provides an efficient method for …

Common variants at 19p13 are associated with susceptibility to ovarian cancer

KL Bolton, J Tyrer, H Song, SJ Ramus, M Notaridou… - Nature …, 2010 - nature.com
Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological
malignancy in the developed world, accounting for 4% of the deaths from cancer in women …

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

T Walsh, S Casadei, MK Lee… - Proceedings of the …, 2011 - National Acad Sciences
Inherited loss-of-function mutations in BRCA1 and BRCA2 and other tumor suppressor
genes predispose to ovarian carcinomas, but the overall burden of disease due to inherited …