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2 Journal of Applied Genetics

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

100%

Brozek I. , Ochman K. , Debniak J. , Morzuch L. , Ratajska M. , Stepnowska M. , Stukan M. , Emerich J. , Limon J.

Journal of Applied Genetics

2009

tom 50

nr 4

379-384

Loss of heterozygosity at BRCA 1/2 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 BRACA1-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 BRCAl intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCAl germline mutations.

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

80%

Ratajska M. , Krygier M. , Stukan M. , Kuzniacka A. , Koczkowska M. , Dudziak M. , Sniadecki M. , Debniak J. , Wydra D. , Brozek I. , Biernat W. , Borg A. , Limon J. , Wasag B.

Journal of Applied Genetics

2015

tom 56

nr 2