Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland
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 geno...
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doaj-01448e44bd1f4069b349f272eaba75672020-11-25T03:26:26ZengMDPI AGCancers2072-66942020-08-01122321232110.3390/cancers12082321Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from PolandEmilia Rogoża-Janiszewska0Karolina Malińska1Cezary Cybulski2Anna Jakubowska3Jacek Gronwald4Tomasz Huzarski5Marcin Lener6Bohdan Górski7Wojciech Kluźniak8Helena Rudnicka9Mohammad R. Akbari10Aniruddh Kashyap11Steven A. Narod12Jan Lubiński13Tadeusz Dębniak on behalf of the Polish Hereditary Breast Cancer Dębniak14Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandWomen's College Research Institute, Women's College Hospital, University of Toronto, Toronto ON M5G 1N8, CanadaDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandWomen's College Research Institute, Women's College Hospital, University of Toronto, Toronto ON M5G 1N8, CanadaDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, 71-252 Szczecin, PolandThere 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.https://www.mdpi.com/2072-6694/12/8/2321BRCA1BRCA2PALB2CHEK2NBNRECQL |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Emilia Rogoża-Janiszewska 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 on behalf of the Polish Hereditary Breast Cancer Dębniak |
spellingShingle |
Emilia Rogoża-Janiszewska 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 on behalf of the Polish Hereditary Breast Cancer Dębniak Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland Cancers BRCA1 BRCA2 PALB2 CHEK2 NBN RECQL |
author_facet |
Emilia Rogoża-Janiszewska 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 on behalf of the Polish Hereditary Breast Cancer Dębniak |
author_sort |
Emilia Rogoża-Janiszewska |
title |
Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland |
title_short |
Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland |
title_full |
Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland |
title_fullStr |
Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland |
title_full_unstemmed |
Prevalence of Recurrent Mutations Predisposing to Breast Cancer in Early-Onset Breast Cancer Patients from Poland |
title_sort |
prevalence of recurrent mutations predisposing to breast cancer in early-onset breast cancer patients from poland |
publisher |
MDPI AG |
series |
Cancers |
issn |
2072-6694 |
publishDate |
2020-08-01 |
description |
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. |
topic |
BRCA1 BRCA2 PALB2 CHEK2 NBN RECQL |
url |
https://www.mdpi.com/2072-6694/12/8/2321 |
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