Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.P3054H
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BRCA2

NM_000059.4:p.P3054H

Associated Papers

Variomes: a high recall search engine to support the curation of genomic variants.

Pasche E et al.

Bioinformatics (oxford, England), 2022

35274687 (PubMed )
Supplement: btac146_supplementary_data.pdf

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA2_ethnic_sources_

Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations.

Deb S et al.

British Journal of Cancer, 2014

Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas.

Deb S et al.

Bmc Cancer, 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

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

Karchin R et al.

Cancer Informatics, 2008

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

Scott CL et al.

Human Genetics, 2003

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