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Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population.

Acta biochimica Polonica - 1 Jan 2002

Grzybowska Ewa, Siemińska Marzena, Zientek Helena, Kalinowska Ewa, Michalska Jadwiga, Utracka-Hutka Beata, Rogozińska-Szczepka Jadwiga, Kaźmierczak-Maciejewska Maria

Abstract excerpt

Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR test. Fifteen carriers of three different mutations:...

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Identifiers

PMID: 12362976

Genes

BRCA1
BRCA2

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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