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Article

Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.

Clinical chemistry and laboratory medicine - 1 Dec 2012

Vietri Maria Teresa, Molinari Anna Maria, Laura De Paola Maria, Cantile Flavia, Fasano Morena, Cioffi Michele

Abstract excerpt

BACKGROUND: An estimated 5 % – 10 % of all breast cancers are due to an inherited predisposition and, out of these, about 30 % are caused by germline mutations of the BRCA1 and BRCA2 genes. The prevalence of germline mutations in theBRCA1 and BRCA2 genes varies among ethnic groups. The aims of this study are to evaluate deleterious mutations and genomic rearrangements in BRCA1/2 genes and the CHEK21100delC...

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Source

Identifiers

PMID: 23096105
DOI: 10.1515/cclm-2012-0154

Genes

BRCA2
BRCA1
CHEK2

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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