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[Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg].

Genetika - 1 Mar 2005

Grudinina N A, Golubkov V I, Tikhomirova O S, Brezhneva T V, Hanson K P, Vasilyev V B, Mandelshtam M Y u

Abstract excerpt

Ten variants different from the canonical nucleotide sequence (GenBank, U14680) has been identified when studying the mutation spectrum in gene BRCA1. Six of them (5382insC, 2963del10, 3819de15, 3875del4, 2274insA, and R1203X) cause premature termination of protein synthesis, thus predisposing to breast cancer. A missense mutation E1250K is presumed to be a factor of predisposition to cancer. We classified three...

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Identifiers

PMID: 15865297

Genes

BRCA1

Variants

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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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