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Article

A unique BRCA1 mutation identified in Mongolia.

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society - 1 Jan 2000

Elit L, Jack E, Kwan E, Baigal G, Narod S

Abstract excerpt

This is a case report of genetic assessment conducted on a family residing in the third world where two sisters have presented with early onset ovarian cancer. Protein truncation testing and DNA sequencing identified a unique mutation on exon 11 (3452delA) of the BRCA1 gene. Buccal swab testing of three siblings and three offspring showed that half of the family members carried the same mutation. Currently,...

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Source

Identifiers

PMID: 11437933
DOI: 10.1046/j.1525-1438.2001.01020.x

Genes

BRCA1

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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