A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history.

doi:10.1007/s10689-010-9389-7

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A new mutation of BRCA2 gene in an Italian healthy woman with familial breast cancer history.

Familial cancer - 1 Mar 2011

Pisanò Maurizio, Mezzolla Valeria, Galante Maria Maddalena, Alemanno Giovanni, Manca Corrado, Lorusso Vito, Malvasi Antonio, Tinelli Andrea

Abstract excerpt

Heterozygous germ line mutations in the Breast CAncer1 (BRCA1) and BRCA2 genes can lead to a high risk of breast and ovarian cancer, in addition to a significantly increased susceptibility of pancreatic, prostate and male breast cancer. The BRCA2 belongs to the tumor suppressor gene family and the protein encoded by this gene is involved in the repair of chromosomal damage, with an important role in the...

Topics

Adult
BRCA2 Protein
Base Sequence
Breast
Breast Neoplasms
Exons
Female
Frameshift Mutation
Genetic Predisposition to Disease
Genetic Testing
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Italy

Male

Middle Aged

Molecular Sequence Data

Nuclear Localization Signals

Pedigree

Source

Open in PubMed

Identifiers

PMID: 20878484
DOI: 10.1007/s10689-010-9389-7

Genes

BRCA2
BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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