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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

vol. 50

issue 4

379-384

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.

Gliomas: association of histology and molecular genetic analysis of chromosomes 1p, 10q, and 19q

75%

Gresner S. M., Rieske P., Wozniak K., Piaskowski S., Jaskolski D. J., Skowronski W., Sikorska B., Papierz W., Liberski P. P.

Acta Neurobiologiae Experimentalis

2007

vol. 67

issue 2

103-112

The aim of our study was to evaluate the frequencies of loss of heterozygosity (LOH) on chromosomes 1p, 10q, and 19q in gliomas and to correlate them with the histological diagnosis and with patient age and gender. We found deletions within chromosome 1p to be significantly associated with the histological subtype of glial tumor (P < 0.05); frequency of 1p deletions increased from astrocytoma (0%) through glioblastoma (31%) and oligoastrocytoma (57%) to oligodendroglioma (63%). In patients with 1p LOH, the odds for having astrocytoma or glioblastoma were approximately 10-fold and 4-fold lower, respectively, than oligodendroglioma. The odds for having oligoastrocytoma were similar to oligodendroglioma (OR = 1.3). The frequency of 10q LOH in patients with glioblastoma was significantly higher than in patients with oligodendroglioma (89% vs. 36%; P < 0.005). In patients with oligodendroglioma, most cases with LOH on chromosome 1p also had LOH 19q (90%), one case of 1p LOH also had a deletion on 10q. Statistical analyses revealed a significant association between deletions on 1p and 19q (P < 0.05). Our data provide evidence that use of molecular genetic analyses of chromosomes 1p, 19q, and 10q might improve the diagnosis of gliomas.

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1 Acta Neurobiologiae Experimentalis

1 Journal of Applied Genetics

1 2009

1 2007

1 Brozek I.

1 Debniak J.

1 Emerich J.

1 Gresner S. M.

1 Jaskolski D. J.

1 Liberski P. P.

1 Limon J.

1 Morzuch L.

1 Ochman K.

1 Papierz W.

1 Piaskowski S.

1 Ratajska M.

1 Rieske P.

1 Sikorska B.

1 Skowronski W.

1 Stepnowska M.

1 Stukan M.

1 Wozniak K.

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

Gliomas: association of histology and molecular genetic analysis of chromosomes 1p, 10q, and 19q