Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer
© The Author(s) 2022. Published by Oxford University Press..
BACKGROUND: Pathogenic germline mutations in the BRCA1 and BRCA2 (BRCA1/2) genes contribute to hereditary breast/ovarian cancer (OC) in White/mestizo Colombian women. As there is virtually no genetic data on breast cancer (BC) in Colombians of African descent, we conducted a comprehensive BRCA1/2 mutational analysis of 60 Afro-Colombian families affected by breast/OC.
MATERIALS AND METHODS: Mutation screening of the complete BRCA1/2 genes for small-scale mutations and large genomic alterations was performed in these families using next-generation sequencing and multiplex ligation-dependent probe amplification analysis.
RESULTS: Four pathogenic germline mutations, including one novel mutation, were identified, comprising 3 in BRCA1 and one in BRCA2. The prevalence of BRCA1/2 mutations, including one BRCA1 founder mutation (c.5123C>A) previously identified in this sample set, was 3.9% (2/51) in female BC-affected families and 33.3% (3/9) in those affected by both breast and OC. Haplotype analysis of 2 BRCA2_c.2701delC carriers (one Afro-Colombian and one previously identified White/mestizo Colombian patient with BC) suggested that the mutation arose in a common ancestor.
CONCLUSION: Our data showed that 2/5 (40%) mutations (including the one previously identified in this sample set) are shared by White/mestizo Colombian and Afro-Colombian populations. This suggests that these 2 populations are closely related. Nevertheless, variations in the BRCA1/2 mutational spectrum among Afro-Colombian subgroups from different regions of the country were observed, suggesting that specific genetic risk assessment strategies need to be developed.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:27 |
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| Enthalten in: |
The oncologist - 27(2022), 2 vom: 04. März, Seite e151-e157 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Vargas, Elizabeth [VerfasserIn] |
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| Links: |
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| Themen: |
Afro-Colombian |
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| Anmerkungen: |
Date Completed 02.06.2022 Date Revised 16.07.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.1093/oncolo/oyab026 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 100 | 1 | |a Vargas, Elizabeth |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer |
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| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © The Author(s) 2022. Published by Oxford University Press. | ||
| 520 | |a BACKGROUND: Pathogenic germline mutations in the BRCA1 and BRCA2 (BRCA1/2) genes contribute to hereditary breast/ovarian cancer (OC) in White/mestizo Colombian women. As there is virtually no genetic data on breast cancer (BC) in Colombians of African descent, we conducted a comprehensive BRCA1/2 mutational analysis of 60 Afro-Colombian families affected by breast/OC | ||
| 520 | |a MATERIALS AND METHODS: Mutation screening of the complete BRCA1/2 genes for small-scale mutations and large genomic alterations was performed in these families using next-generation sequencing and multiplex ligation-dependent probe amplification analysis | ||
| 520 | |a RESULTS: Four pathogenic germline mutations, including one novel mutation, were identified, comprising 3 in BRCA1 and one in BRCA2. The prevalence of BRCA1/2 mutations, including one BRCA1 founder mutation (c.5123C>A) previously identified in this sample set, was 3.9% (2/51) in female BC-affected families and 33.3% (3/9) in those affected by both breast and OC. Haplotype analysis of 2 BRCA2_c.2701delC carriers (one Afro-Colombian and one previously identified White/mestizo Colombian patient with BC) suggested that the mutation arose in a common ancestor | ||
| 520 | |a CONCLUSION: Our data showed that 2/5 (40%) mutations (including the one previously identified in this sample set) are shared by White/mestizo Colombian and Afro-Colombian populations. This suggests that these 2 populations are closely related. Nevertheless, variations in the BRCA1/2 mutational spectrum among Afro-Colombian subgroups from different regions of the country were observed, suggesting that specific genetic risk assessment strategies need to be developed | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a BRCA1/2 | |
| 650 | 4 | |a Afro-Colombian | |
| 650 | 4 | |a breast cancer | |
| 650 | 4 | |a germline mutation | |
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| 650 | 7 | |a BRCA2 Protein |2 NLM | |
| 650 | 7 | |a BRCA2 protein, human |2 NLM | |
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| 700 | 1 | |a Villegas, Victoria E |e verfasserin |4 aut | |
| 700 | 1 | |a Gil, Fabian |e verfasserin |4 aut | |
| 700 | 1 | |a Mora, Lina |e verfasserin |4 aut | |
| 700 | 1 | |a Viaña, Luis Fernando |e verfasserin |4 aut | |
| 700 | 1 | |a Bruges, Ricardo |e verfasserin |4 aut | |
| 700 | 1 | |a Gonzalez, Alejandro |e verfasserin |4 aut | |
| 700 | 1 | |a Galvis, Juan Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a Hamann, Ute |e verfasserin |4 aut | |
| 700 | 1 | |a Torres, Diana |e verfasserin |4 aut | |
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