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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

artículo científico publicado en 2018

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

artículo científico publicado en 2012

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

artículo científico publicado en 2017

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Rare variants in XRCC2 as breast cancer susceptibility alleles

artículo científico publicado en 2012

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

artículo científico publicado en 2011

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