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Brief Report

Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland

1
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, Poland
2
Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto ON M5G 1N8, Canada
3
Dalla Lana School of Public Health, University of Toronto, Toronto ON M5T 3M7, Canada
*
Author to whom correspondence should be addressed.
Membership of the Polish Hereditary Breast Cancer Consortium is provided in the Acknowledgments.
Cancers 2020, 12(8), 2321; https://doi.org/10.3390/cancers12082321
Received: 16 July 2020 / Revised: 8 August 2020 / Accepted: 13 August 2020 / Published: 17 August 2020
(This article belongs to the Section Cancer Causes, Screening and Diagnosis)
There are twenty recurrent mutations in six breast-cancer-predisposing genes in Poland (BRCA1, BRCA2, CHEK2, PALB2, NBN, and RECQL). The frequencies of the twenty alleles have not been measured in a large series of early-onset breast cancer patients from Poland unselected for family history. We genotyped 2464 women with breast cancer diagnosed below age 41 years for twenty recurrent germline mutations in six genes, including BRCA1, BRCA2 CHEK2, PALB2, NBN, and RECQL. A mutation in one of the six genes was identified in 419 of the 2464 early-onset breast cancer cases (17%), including 22.4% of those cases diagnosed below age 31. The mutation frequency was 18.8% for familial breast cancer cases and 6% for non-familial cases. Among women with breast cancer below age 31, the mutation frequency was 23.6% for familial cases and 17.4% in non-familial cases. The majority of mutations (76.2%) were seen in BRCA1 and BRCA2. In Poland, a panel of twenty recurrent mutations in six genes can identify a genetic basis for a high percentage of early-onset cases and testing is recommended for all women with breast cancer at age 40 or below. View Full-Text
Keywords: BRCA1; BRCA2; PALB2; CHEK2; NBN; RECQL; breast cancer; hereditary BRCA1; BRCA2; PALB2; CHEK2; NBN; RECQL; breast cancer; hereditary
MDPI and ACS Style

Rogoża-Janiszewska, E.; Malińska, K.; Cybulski, C.; Jakubowska, A.; Gronwald, J.; Huzarski, T.; Lener, M.; Górski, B.; Kluźniak, W.; Rudnicka, H.; Akbari, M.R.; Kashyap, A.; Narod, S.A.; Lubiński, J.; Dębniak, T.; on behalf of the Polish Hereditary Breast Cancer Consortium. Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland. Cancers 2020, 12, 2321. https://doi.org/10.3390/cancers12082321

AMA Style

Rogoża-Janiszewska E, Malińska K, Cybulski C, Jakubowska A, Gronwald J, Huzarski T, Lener M, Górski B, Kluźniak W, Rudnicka H, Akbari MR, Kashyap A, Narod SA, Lubiński J, Dębniak T, on behalf of the Polish Hereditary Breast Cancer Consortium. Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland. Cancers. 2020; 12(8):2321. https://doi.org/10.3390/cancers12082321

Chicago/Turabian Style

Rogoża-Janiszewska, Emilia, Karolina Malińska, Cezary Cybulski, Anna Jakubowska, Jacek Gronwald, Tomasz Huzarski, Marcin Lener, Bohdan Górski, Wojciech Kluźniak, Helena Rudnicka, Mohammad R. Akbari, Aniruddh Kashyap, Steven A. Narod, Jan Lubiński, Tadeusz Dębniak, and on behalf of the Polish Hereditary Breast Cancer Consortium. 2020. "Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland" Cancers 12, no. 8: 2321. https://doi.org/10.3390/cancers12082321

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