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Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.
Palmer, Julie R; Polley, Eric C; Hu, Chunling; John, Esther M; Haiman, Christopher; Hart, Steven N; Gaudet, Mia; Pal, Tuya; Anton-Culver, Hoda; Trentham-Dietz, Amy; Bernstein, Leslie; Ambrosone, Christine B; Bandera, Elisa V; Bertrand, Kimberly A; Bethea, Traci N; Gao, Chi; Gnanaolivu, Rohan D; Huang, Hongyan; Lee, Kun Y; LeMarchand, Loic; Na, Jie; Sandler, Dale P; Shah, Payal D; Yadav, Siddhartha; Yang, William; Weitzel, Jeffrey N; Domchek, Susan M; Goldgar, David E; Nathanson, Katherine L; Kraft, Peter; Couch, Fergus J.
Afiliação
  • Palmer JR; Department of Medicine, Boston University School of Medicine, and Slone Epidemiology Center, Boston, MA 02118, USA.
  • Polley EC; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • Hu C; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • John EM; Department of Health Research & Policy, Stanford University School of Medicine, Stanford, CA 94305, USA.
  • Haiman C; Department of Preventive Medicine, University of Southern California, Los Angeles, CA 90033, USA.
  • Hart SN; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • Gaudet M; Epidemiology Research, American Cancer Society, Atlanta, GA 30303, USA.
  • Pal T; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
  • Anton-Culver H; Department of Medicine, UC Irvine, Irvine, CA 92697, USA.
  • Trentham-Dietz A; Department of Population Health Sciences and Carbone Cancer Center, University of Wisconsin-Madison, Madison, WI 53726, USA.
  • Bernstein L; Department of Population Sciences, City of Hope, Duarte, CA 91010, USA.
  • Ambrosone CB; Department of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Center, Buffalo, NY 14203, USA.
  • Bandera EV; Cancer Epidemiology and Health Outcomes, Rutgers Cancer Institute of New, New Brunswick, NJ 08903, USA.
  • Bertrand KA; Department of Medicine, Boston University School of Medicine, and Slone Epidemiology Center, Boston, MA 02118, USA.
  • Bethea TN; Department of Medicine, Boston University School of Medicine, and Slone Epidemiology Center, Boston, MA 02118, USA.
  • Gao C; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA 02115, USA.
  • Gnanaolivu RD; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • Huang H; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA 02115, USA.
  • Lee KY; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • LeMarchand L; Population Sciences in the Pacific Program (Cancer Epidemiology), University of Hawaii Cancer Center Honolulu, HI 96813, USA.
  • Na J; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • Sandler DP; Epidemiology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.
  • Shah PD; Abramson Cancer Center and Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Yadav S; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • Yang W; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • Weitzel JN; Department of Population Sciences, City of Hope, Duarte, CA 91010, USA.
  • Domchek SM; Abramson Cancer Center and Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
  • Nathanson KL; Abramson Cancer Center and Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Kraft P; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
  • Couch FJ; Departments of Health Sciences Research, Laboratory Medicine and Pathology, and Oncology, Mayo Clinic, Rochester, MN 55902, USA.
J Natl Cancer Inst ; 2020 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-32427313
ABSTRACT

BACKGROUND:

The risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women with breast cancer and 4993 unaffected AA women drawn from 10 epidemiologic studies.

METHODS:

Germline DNA samples were sequenced for mutations in 23 cancer predisposition genes using a QIAseq multiplex amplicon panel. Prevalence of mutations and odds ratios (ORs) for associations with breast cancer risk were estimated with adjustment for study design, age, and family history of breast cancer.

RESULTS:

Pathogenic mutations were identified in 10.3% of women with estrogen receptor (ER)-negative breast cancer, 5.2% of women with ER-positive breast cancer, and 2.3% of unaffected women. Mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (OR = 47.55, 95% confidence interval [CI] = 10.43 to >100; OR = 7.25, 95% CI = 4.07 to 14.12; OR = 8.54, 95% CI = 3.67 to 24.95, respectively). RAD51D mutations were associated with high risk of ER-negative disease (OR = 7.82, 95% CI = 1.61 to 57.42). Moderate risks were observed for CHEK2, ATM, ERCC3, and FANCC mutations with ER-positive cancer, and RECQL mutations with all breast cancer.

CONCLUSIONS:

The study identifies genes that predispose to breast cancer in the AA population, demonstrates the validity of current breast cancer testing panels for use in AA women, and provides a basis for increased referral of AA patients for cancer genetic testing.
Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Estudo de etiologia / Estudo prognóstico / Fatores de risco Idioma: Inglês Ano de publicação: 2020 Tipo de documento: Artigo País de afiliação: Estados Unidos

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Estudo de etiologia / Estudo prognóstico / Fatores de risco Idioma: Inglês Ano de publicação: 2020 Tipo de documento: Artigo País de afiliação: Estados Unidos
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