[PDF][PDF] http://eprints. gla. ac. uk/117662

HD Meeks - academia.edu
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 …

A Rare Truncating BRCA2 Variant and Genetic Susceptibility to Upper Aerodigestive Tract Cancer

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 …

Association of BRCA2 K3326* With Small Cell Lung Cancer and Squamous Cell Cancer of the Skin

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) …

Reevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer context

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 …

Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance

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 …

The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

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 …

[PDF][PDF] BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

HD Meeks, H Song, K Michailidou… - Journal of the …, 2016 - academic.oup.com
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 …

Polymorphism rs144848 in BRCA2 may Reduce Lung Cancer Risk in Women: A Case-Control Study in Southeast China

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 …

BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels

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 …

Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants

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) …