Loss of heterozygosity at BRCA1/2 loci in hereditary and sporadic ovarian cancers

• Published in: Journal of applied genetics Vol. 50; no. 4; pp. 379 - 384
• Main Authors: Brozek, I, Ochman, K, Debniak, J, Morzuch, L, Ratajska, M, Stepnowska, M, Stukan, M, Emerich, J, Limon, J
• Format: Journal Article
• Language: English
• Published: England 2009
• Subjects: Chromosomes, Human, Pair 13 - genetics; Chromosomes, Human, Pair 17 - genetics; Female; Genes, BRCA1; Genes, BRCA2; Germ-Line Mutation; Humans; Loss of Heterozygosity; Microsatellite Repeats; Ovarian Neoplasms - genetics; Ovarian Neoplasms - pathology; Poland; Risk Factors; Poland
• ISSN: 1234-1983
• DOI: 10.1007/BF03195697

Loss of heterozygosity at BRCA1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses at BRCA1 intragenic markers (D17S855 and D17S1323) between BRCA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses at BRCA1 intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCA1 germline mutations.