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Open AccessArticle

Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer

1
Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland
2
Department of Gynecological Surgery and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University in Szczecin, 70-111 Szczecin, Poland
3
Department of Histology, Department of Biology and Genetics, Faculty of Medicine, University of Opole, 45-040 Opole, Poland
4
Department of Surgery and Oncology, University of Zielona Góra, 65-046 Zielona Góra, Poland
5
Department of Chemotherapy Ludwik Rydygier Memorial Specialist Hospital, Zlotej Jesieni 1, 31-820 Krakow, Poland
6
Department of Gynaecologic Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Krakow Branch, 31-115 Krakow, Poland
7
Department of Gynecology and Obstetrics, Institute of Medical, Sciences, Medical College of Rzeszow University, 35-959 Rzeszow, Poland
8
Department of Clinical Genetics and Pathology University of Zielona Góra, 65-046 Zielona Góra, Poland
9
Department of Gynecological Oncology, Poznan University of Medical Science, 60-569 Poznań, Poland
10
Department of Oncology and Chemotherapy, Pomeranian Medical University in Szczecin, 70-111 Szczecin, Poland
11
Women’s College Research Institute, Toronto, ON M5S 1B2, Canada
12
Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland
*
Author to whom correspondence should be addressed.
Academic Editor: Charles Theillet
Cancers 2021, 13(4), 849; https://doi.org/10.3390/cancers13040849
Received: 13 January 2021 / Revised: 11 February 2021 / Accepted: 15 February 2021 / Published: 18 February 2021
(This article belongs to the Special Issue Changing Landscape of Hereditary Breast and Ovarian Cancer)
In Poland, ovarian cancer is the fourth leading cause of death from cancer among women. Several founder mutations in the BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 genes are associated with breast and ovarian cancer. The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in the above genes with ovarian cancer risk among unselected patients in Poland. The ovarian cancer risk was associated with mutations in BRCA1, BRCA2, RAD51C, and PALB2 but not in the CHEK2 gene. Excluding CHEK2, pathogenic mutations in the other 18 alleles were present in 12.5% of cases and 0.6% of healthy controls. A mutation was found in 25.8% of familial cases vs. 9.9% of non-familial cases. We recommend that in Poland all women with ovarian cancer and first-degree female relatives should be tested for the panel of 18 founder mutations in BRCA1, BRCA2, PALB2, and RAD51C.
The aim of the study was to analyze the frequency and magnitude of association of 21 recurrent founder germline mutations in BRCA1, BRCA2, PALB2, RAD51C, and CHEK2 genes with ovarian cancer risk among unselected patients in Poland. We genotyped 21 recurrent germline mutations in BRCA1 (9 mutations), BRCA2 (4 mutations), RAD51C (3 mutations), PALB2 (2 mutations), and CHEK2 (3 mutations) among 2270 Polish ovarian cancer patients and 1743 healthy controls, and assessed the odds ratios (OR) for developing ovarian cancer for each gene. Mutations were detected in 369 out of 2095 (17.6%) unselected ovarian cancer cases and 117 out of 1743 (6.7%) unaffected controls. The ovarian cancer risk was associated with mutations in BRCA1 (OR = 40.79, 95% CI: 18.67–114.78; p = 0.29 × 10−15), in BRCA2 (OR = 25.98; 95% CI: 1.55–434.8; p = 0.001), in RAD51C (OR = 6.28; 95% CI 1.77–39.9; p = 0.02), and in PALB2 (OR 3.34; 95% CI: 1.06–14.68; p = 0.06). There was no association found for CHEK2. We found that pathogenic mutations in BRCA1, BRCA2, RAD51C or PALB2 are responsible for 12.5% of unselected cases of ovarian cancer. We recommend that all women with ovarian cancer in Poland and first-degree female relatives should be tested for this panel of 18 mutations. View Full-Text
Keywords: ovarian cancer; recurrent mutations; BRCA1; BRCA2; RAD51C; PALB2; CHEK2; cancer risk ovarian cancer; recurrent mutations; BRCA1; BRCA2; RAD51C; PALB2; CHEK2; cancer risk
MDPI and ACS Style

Łukomska, A.; Menkiszak, J.; Gronwald, J.; Tomiczek-Szwiec, J.; Szwiec, M.; Jasiówka, M.; Blecharz, P.; Kluz, T.; Stawicka-Niełacna, M.; Mądry, R.; Białkowska, K.; Prajzendanc, K.; Kluźniak, W.; Cybulski, C.; Dębniak, T.; Huzarski, T.; Tołoczko-Grabarek, A.; Byrski, T.; Baszuk, P.; Narod, S.A.; Lubiński, J.; Jakubowska, A. Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer. Cancers 2021, 13, 849. https://doi.org/10.3390/cancers13040849

AMA Style

Łukomska A, Menkiszak J, Gronwald J, Tomiczek-Szwiec J, Szwiec M, Jasiówka M, Blecharz P, Kluz T, Stawicka-Niełacna M, Mądry R, Białkowska K, Prajzendanc K, Kluźniak W, Cybulski C, Dębniak T, Huzarski T, Tołoczko-Grabarek A, Byrski T, Baszuk P, Narod SA, Lubiński J, Jakubowska A. Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer. Cancers. 2021; 13(4):849. https://doi.org/10.3390/cancers13040849

Chicago/Turabian Style

Łukomska, Alicja; Menkiszak, Janusz; Gronwald, Jacek; Tomiczek-Szwiec, Joanna; Szwiec, Marek; Jasiówka, Marek; Blecharz, Paweł; Kluz, Tomasz; Stawicka-Niełacna, Małgorzata; Mądry, Radosław; Białkowska, Katarzyna; Prajzendanc, Karolina; Kluźniak, Wojciech; Cybulski, Cezary; Dębniak, Tadeusz; Huzarski, Tomasz; Tołoczko-Grabarek, Aleksandra; Byrski, Tomasz; Baszuk, Piotr; Narod, Steven A.; Lubiński, Jan; Jakubowska, Anna. 2021. "Recurrent Mutations in BRCA1, BRCA2, RAD51C, PALB2 and CHEK2 in Polish Patients with Ovarian Cancer" Cancers 13, no. 4: 849. https://doi.org/10.3390/cancers13040849

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