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Genetic predisposition to breast and/or ovarian cancer – focus on the candidate BARD1 gene

100%

Klonowska K., Ratajska M., Wojciechowska M., Kozlowski P.

BioTechnologia. Journal of Biotechnology Computational Biology and Bionanotechnology

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2014

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tom 95

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nr 3

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Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

76%

Kuzniacka A., Wierzba J., Ratajska M., Lipska B. S., Koczkowska M., Malinowska M., Limon J.

Journal of Applied Genetics

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2013

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tom 54

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nr 1

Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About half of the cases result from mutations in the NIPBL gene coding delangin, a protein regulating the initialisation of cohesion. To date, approximately 250 point mutations have been identified in more than 300 CdLS patients worldwide. In the present study, conducted on a group of 64 unrelated Polish CdLS patients, 25 various NIPBL sequence variants, including 22 novel point mutations, were detected. Additionally, large genomic deletions on chromosome 5p13 encompassing the NIPBL gene locus were detected in two patients with the most severe CdLS phenotype. Taken together, 42 % of patients were found to have a deleterious alteration affecting the NIPBL gene, by and large private ones (89 %). The review of the types of mutations found so far in Polish patients, their frequency and correlation with the severity of the observed phenotype shows that Polish CdLS cases do not significantly differ from other populations.

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

64%

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

Journal of Applied Genetics

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2009

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tom 50

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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.

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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

51%

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

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2015

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tom 56

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nr 2

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Prevalence of the most frequent BRCA1 mutations in Polish population

39%

Brozek I., Cybulska C., Ratajska M., Piatkowska M., Kluska A., Balabas A., Dabrowska M., Nowakowska D., Niwinska A., Pamula-Pilat J., Tecza K., Pekala W., Rembowska J., Nowicka K., Mosor M., Januszkiewicz-Lewandowska D., Rachtan J., Grzybowska E., Nowak J., Steffen J., Limon J.

Journal of Applied Genetics

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2011

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tom 52

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nr 3

The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were performed on a group of respectively 16,849, 13,462, 12,485 and 3923 anonymous samples collected at birth in seven Polish provinces. The patient group consisted of 1845 consecutive female breast cancer cases. The most frequent BRCA1 mutation in the general population was 5382insC found in 29 out of 16,849 samples (0.17%). 300T >G and 3819del5 mutations were found in respectively 11 of 13,462 (0.08%) and four of 3923 (0.1%) samples. The population prevalence for combined Polish founder 5382insC and 300T >G mutations was 0.25% (1/400). The frequencies of 5382insC and 300T >G carriers among consecutive breast cancer cases were, respectively, 1.9% (35/1845) and 1.2% (18/1486). Comparing these data with the population frequency, we calculated the relative risk of breast cancer for 5382insC mutation at OR = 17 and for 300T >G mutation at OR = 26. Our results, based on large population studies, show high frequencies of founder 5382insC and 300T >G BRCA1 mutations in Polish general population. Carriage of one of these mutations is connected with a very high relative risk of breast cancer.

Ograniczanie wyników

Genetic predisposition to breast and/or ovarian cancer – focus on the candidate BARD1 gene

Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

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

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

Prevalence of the most frequent BRCA1 mutations in Polish population