title: Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier.
abstract: BRCA1 functions as a tumor suppressor gene and germline and somatic mutations in this gene have been shown to be associated with many types of cancer. We report the first tumor study of renal cell carcinoma in a carrier of the deleterious BRCA1 mutation-c.68_69delAG.
authors.affiliation: Department of Surgery, Urology Service, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
authors.forename: Shaheen
authors.initials: S
authors.lastname: Alanee
authors.forename: Sohela
authors.initials: S
authors.lastname: Shah
authors.forename: Rajmohan
authors.initials: R
authors.lastname: Murali
authors.forename: Rohini
authors.initials: R
authors.lastname: Rau-Murthy
authors.forename: Kasmintan A
authors.initials: KA
authors.lastname: Schrader
authors.forename: Kenneth
authors.initials: K
authors.lastname: Offit
mesh_terms: D000328:Adult; D005260:Female; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D019656:Loss of Heterozygosity; D008875:Middle Aged