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Molecular and in silico analysis of BRCA1 and BRCA2 variants.

Mutation research - 26 Sept 2008

Tommasi Stefania, Pilato Brunella, Pinto Rosamaria, Monaco Alessandro, Bruno Michele, Campana Marco, Digennaro Maria, Schittulli Francesco, Lacalamita Rosanna, Paradiso Angelo

Abstract excerpt

Germline mutations of high penetrant BRCA1 and BRCA2 genes have been associated to hereditary breast cancer risk, while polymorphic variants of the two genes still have an unknown role in breast pathogenesis. The aim of our study was to characterize BRCA1 and BRCA2 genes polymorphic variants in familial breast cancer. 110 patients affected by familial breast and/or ovarian cancer have been consecutively enrolled...

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Source

Identifiers

PMID: 18694767
DOI: 10.1016/j.mrfmmm.2008.07.005

Genes

BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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