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Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan.

Familial cancer - 1 Dec 2011

Rashid Muhammad U, Gull Sidra, Faisal Saima, Khaliq Saba, Asghar Kashif, Siddiqui Neelam, Amin Asim, Hamann Ute

Abstract excerpt

Pathogenic germ line mutations in the BRCA1 and BRCA2 genes confer elevated risk of breast and ovarian cancer in females and have a link with variety of cancers other than breast cancer in males. Here we report the first case of a 45-year-old Pakistani male with renal cell carcinoma who was identified to harbor a disease-associated BRCA1 germ line mutation, 2080insA. Detailed description of the family history,...

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Source

Identifiers

PMID: 21751003
DOI: 10.1007/s10689-011-9467-5

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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