Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.T1430I
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BRCA2

NM_000059.4:p.T1430I

Associated Papers

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S6

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM3_ESM.xls › Sheet1

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

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

Giannini G et al.

Breast Cancer Research and Treatment, 2006

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.

de Sanjosé S et al.

International Journal of Cancer, 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."