Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.H2932P
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BRCA2

NM_000059.4:p.H2932P

Associated Papers

Functional assays for analysis of variants of uncertain significance in BRCA2.

Guidugli L et al.

Human Mutation, 2014

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

Lindor NM et al.

Human Mutation, 2012

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL et al.

Bmc Cancer, 2011

21702907 (PubMed )
Supplement: 1471-2407-11-265-S5.XLS › Variants_in_targ._validation

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

Gonzalez-Hormazabal P et al.

Breast Cancer Research and Treatment, 2011

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.

Kuznetsov SG et al.

Nature Medicine, 2008

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Pettigrew CA et al.

Breast Cancer Research and Treatment, 2008

BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.

Soegaard M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2008

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Waddell N et al.

Plos Genetics, 2008

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

Chenevix-Trench G et al.

Cancer Research, 2006

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

Claes K et al.

British Journal of Cancer, 2004

Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.

Edwards SM et al.

American Journal of Human Genetics, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."