M Delahaye-Sourdeix, D Anantharaman… - Journal of the …, 2015 - academic.oup.com
Deleterious BRCA2 genetic variants markedly increase risk of developing breast cancer. A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a …
T Rafnar, GR Sigurjonsdottir, SN Stacey… - JNCI: Journal of the …, 2018 - academic.oup.com
Background Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326*(rs11571833) …
ER Thompson, KL Gorringe, SM Rowley, N Li… - Scientific reports, 2015 - nature.com
The breast cancer predisposition gene, BRCA2, has a large number of genetic variants of unknown effect. The variant rs11571833, an A> T transversion in the final exon of the gene …
HM Surowy, C Sutter, M Mittnacht, R Klaes… - Breast Cancer Research …, 2014 - Springer
Variants of uncertain clinical significance (VUS) in the high-penetrance breast cancer susceptibility genes BRCA1 and BRCA2 represent a major obstacle in genetic counseling of …
M Colombo, I Lòpez‐Perolio, HD Meeks… - Human …, 2018 - Wiley Online Library
Although the spliceogenic nature of the BRCA2 c. 68‐7T> A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified …
Abstract Background: The K3326X variant in BRCA2 (BRCA2* c. 9976A> T; p. Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer …
Y Lin, F He, X Zhang, T Yu, Z Liu, L Cai - Tumori Journal, 2016 - journals.sagepub.com
Purpose Whereas lung cancer incidence among men has declined in recent years, the incidence rate among women has increased rapidly. Sex could affect DNA repair capacity …
L Zhang, L Chen, R Bacares, JM Ruggeri… - Breast cancer research …, 2011 - Springer
Mutation screening of the breast and ovarian cancer predisposition genes BRCA1 and BRCA2 is becoming an increasingly important part of clinical practice. Classification of rare …
H Butz, J Papp, A Bozsik, L Krokker, T Pócza, E Oláh… - Cancers, 2021 - mdpi.com
Simple Summary The potential pathogenic role of germline BRCA2 c. 9976A> T and c. 10095delinsGAATTATATCT was evaluated in hereditary breast and ovarian cancer (HBOC) …