title: Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan.
abstract: 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, clinical presentation and histopathological features of the renal cell carcinoma are presented.
authors.forename: Muhammad U
authors.initials: MU
authors.lastname: Rashid
authors.forename: Sidra
authors.initials: S
authors.lastname: Gull
authors.forename: Saima
authors.initials: S
authors.lastname: Faisal
authors.forename: Saba
authors.initials: S
authors.lastname: Khaliq
authors.forename: Kashif
authors.initials: K
authors.lastname: Asghar
authors.forename: Neelam
authors.initials: N
authors.lastname: Siddiqui
authors.forename: Asim
authors.initials: A
authors.lastname: Amin
authors.forename: Ute
authors.initials: U
authors.lastname: Hamann
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D010375:Pedigree