Inherited predisposition to breast cancer in the Carolina Breast Cancer Study

Abstract The Carolina Breast Cancer Study (CBCS) phases I–II was a case-control study of biological and social risk factors for invasive breast cancer that enrolled cases and controls between 1993 and 1999. Case selection was population-based and stratified by ancestry and age at diagnosis. Controls...

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Autores principales:	Tom Walsh, Suleyman Gulsuner, Ming K. Lee, Melissa A. Troester, Andrew F. Olshan, H. Shelton Earp, Charles M. Perou, Mary-Claire King
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/79af691d76c242ef9945a1754be585e1
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spelling	oai:doaj.org-article:79af691d76c242ef9945a1754be585e12021-12-02T13:52:11ZInherited predisposition to breast cancer in the Carolina Breast Cancer Study10.1038/s41523-020-00214-42374-4677https://doaj.org/article/79af691d76c242ef9945a1754be585e12021-01-01T00:00:00Zhttps://doi.org/10.1038/s41523-020-00214-4https://doaj.org/toc/2374-4677Abstract The Carolina Breast Cancer Study (CBCS) phases I–II was a case-control study of biological and social risk factors for invasive breast cancer that enrolled cases and controls between 1993 and 1999. Case selection was population-based and stratified by ancestry and age at diagnosis. Controls were matched to cases by age, self-identified race, and neighborhood of residence. Sequencing genomic DNA from 1370 cases and 1635 controls yielded odds ratios (with 95% confidence limits) for breast cancer of all subtypes of 26.7 (3.59, 189.1) for BRCA1, 8.8 (3.44, 22.48) for BRCA2, and 9.0 (2.06, 39.60) for PALB2; and for triple-negative breast cancer (TNBC) of 55.0 (7.01, 431.4) for BRCA1, 12.1 (4.18, 35.12) for BRCA2, and 10.8 (1.97, 59.11) for PALB2. Overall, 5.6% of patients carried a pathogenic variant in BRCA1, BRCA2, PALB2, or TP53, the four most highly penetrant breast cancer genes. Analysis of cases by tumor subtype revealed the expected association of TNBC versus other tumor subtypes with BRCA1, and suggested a significant association between TNBC versus other tumor subtypes with BRCA2 or PALB2 among African-American (AA) patients [2.95 (1.18, 7.37)], but not among European-American (EA) patients [0.62 (0.18, 2.09)]. AA patients with pathogenic variants in BRCA2 or PALB2 were 11 times more likely to be diagnosed with TNBC versus another tumor subtype than were EA patients with pathogenic variants in either of these genes (P = 0.001). If this pattern is confirmed in other comparisons of similarly ascertained AA and EA breast cancer patients, it could in part explain the higher prevalence of TNBC among AA breast cancer patients.Tom WalshSuleyman GulsunerMing K. LeeMelissa A. TroesterAndrew F. OlshanH. Shelton EarpCharles M. PerouMary-Claire KingNature PortfolioarticleNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENnpj Breast Cancer, Vol 7, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Tom Walsh Suleyman Gulsuner Ming K. Lee Melissa A. Troester Andrew F. Olshan H. Shelton Earp Charles M. Perou Mary-Claire King Inherited predisposition to breast cancer in the Carolina Breast Cancer Study
description	Abstract The Carolina Breast Cancer Study (CBCS) phases I–II was a case-control study of biological and social risk factors for invasive breast cancer that enrolled cases and controls between 1993 and 1999. Case selection was population-based and stratified by ancestry and age at diagnosis. Controls were matched to cases by age, self-identified race, and neighborhood of residence. Sequencing genomic DNA from 1370 cases and 1635 controls yielded odds ratios (with 95% confidence limits) for breast cancer of all subtypes of 26.7 (3.59, 189.1) for BRCA1, 8.8 (3.44, 22.48) for BRCA2, and 9.0 (2.06, 39.60) for PALB2; and for triple-negative breast cancer (TNBC) of 55.0 (7.01, 431.4) for BRCA1, 12.1 (4.18, 35.12) for BRCA2, and 10.8 (1.97, 59.11) for PALB2. Overall, 5.6% of patients carried a pathogenic variant in BRCA1, BRCA2, PALB2, or TP53, the four most highly penetrant breast cancer genes. Analysis of cases by tumor subtype revealed the expected association of TNBC versus other tumor subtypes with BRCA1, and suggested a significant association between TNBC versus other tumor subtypes with BRCA2 or PALB2 among African-American (AA) patients [2.95 (1.18, 7.37)], but not among European-American (EA) patients [0.62 (0.18, 2.09)]. AA patients with pathogenic variants in BRCA2 or PALB2 were 11 times more likely to be diagnosed with TNBC versus another tumor subtype than were EA patients with pathogenic variants in either of these genes (P = 0.001). If this pattern is confirmed in other comparisons of similarly ascertained AA and EA breast cancer patients, it could in part explain the higher prevalence of TNBC among AA breast cancer patients.
format	article
author	Tom Walsh Suleyman Gulsuner Ming K. Lee Melissa A. Troester Andrew F. Olshan H. Shelton Earp Charles M. Perou Mary-Claire King
author_facet	Tom Walsh Suleyman Gulsuner Ming K. Lee Melissa A. Troester Andrew F. Olshan H. Shelton Earp Charles M. Perou Mary-Claire King
author_sort	Tom Walsh
title	Inherited predisposition to breast cancer in the Carolina Breast Cancer Study
title_short	Inherited predisposition to breast cancer in the Carolina Breast Cancer Study
title_full	Inherited predisposition to breast cancer in the Carolina Breast Cancer Study
title_fullStr	Inherited predisposition to breast cancer in the Carolina Breast Cancer Study
title_full_unstemmed	Inherited predisposition to breast cancer in the Carolina Breast Cancer Study
title_sort	inherited predisposition to breast cancer in the carolina breast cancer study
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/79af691d76c242ef9945a1754be585e1
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Inherited predisposition to breast cancer in the Carolina Breast Cancer Study

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