Inherited predisposition to breast cancer among African American women
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- 作者：Jane E. Churpek ; Tom Walsh ; Yonglan Zheng…
- 关键词：Breast cancer ; Next ; generation sequencing ; African American ; Inherited susceptibility
- 刊名：Breast Cancer Research and Treatment
- 出版年：2015
- 出版时间：January 2015
- 年：2015
- 卷：149
- 期：1
- 页码：31-39
- 全文大小：310 KB
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11. Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, Van’t Veer LJ, Garcia-Closas M, Hopper JL, Hall P, Andrulis IL, Devilee P, Fasching PA, Anton-Culver H, Lambrechts D, Hooning M, Cox A, Giles GG, Burwinkel B, Lindblom A, Couch FJ, Mannermaa A, Alnaes GG, John EM, Dork T, Flyger H, Dunning AM, Wang Q, Muranen TA, van Hien R, Figueroa J, Southey MC, Czene K, Knight JA, Tollenaar RA, Beckmann MW, Ziogas A, Christiaens MR, Collee JM, Reed MW, Severi G, Marme F, Margolin S, Olson JE, Kosma VM, Kristensen VN, Miron A, Bogdanova N, Shah M, Blomqvist C, Broeks A, Sherman M, Phillips KA, Li J, Liu J, Glendon G, Seynaeve C, Ekici AB, Leunen K, Kriege M, Cross SS, Baglietto L, Sohn C, Wang X, Kataja V, Borresen-Dale AL, Meyer A, Easton DF, Schmidt MK, Bojesen SE (2012) CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol 30(35):4308-316 Tom Walsh (2)
Yonglan Zheng (1)
Zakiya Moton (1)
Anne M. Thornton (2)
Ming K. Lee (2)
Silvia Casadei (2)
Amanda Watts (2)
Barbara Neistadt (3)
Matthew M. Churpek (3) (4)
Dezheng Huo (4)
Cecilia Zvosec (1)
Fang Liu (1)
Qun Niu (1)
Rafael Marquez (3)
Jing Zhang (1)
James Fackenthal (1)
Mary-Claire King (2)
Olufunmilayo I. Olopade (1) (3)
1. Department of Medicine, Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA
2. Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA
3. Department of Medicine, The University of Chicago, Chicago, IL, USA
4. Department of Health Studies, The University of Chicago, Chicago, IL, USA - 刊物类别：Medicine
- 刊物主题：Medicine & Public Health
Oncology - 出版者：Springer Netherlands
- ISSN：1573-7217
文摘
African Americans have a disproportionate burden of aggressive young-onset breast cancer. Genomic testing for inherited predisposition to breast cancer is increasingly common in clinical practice, but comprehensive mutation profiles remain unknown for most minority populations. We evaluated 289 patients who self-identified as African American with primary invasive breast cancer and with personal or family cancer history or tumor characteristics associated with high genetic risk for all classes of germline mutations in known breast cancer susceptibility genes using a validated targeted capture and multiplex sequencing approach. Sixty-eight damaging germline mutations were identified in 65 (22?%, 95?% CI 18-8?%) of the 289 subjects. Proportions of patients with unequivocally damaging?mutations in a breast cancer gene were 26?% (47/180; 95?% confident interval [CI] 20-3?%) of those with breast cancer diagnosis before age 45; 25?% (26/103; 95?% CI 17-5?%) of those with triple-negative breast cancer (TNBC); 29?% (45/156; 95?% CI 22-7?%) of those with a first or second degree relative with breast cancer before age 60 or with ovarian cancer; and 57?% (4/7; 95?% CI 18-0?%) of those with both breast and ovarian cancer. Of patients with mutations, 80?% (52/65) carried mutations in BRCA1 and BRCA2 genes and 20?% (13/65) carried mutations in PALB2, CHEK2, BARD1, ATM, PTEN, or TP53. The mutational allelic spectrum was highly heterogeneous, with 57 different mutations in 65 patients. Of patients meeting selection criteria other than family history (i.e., with young age at diagnosis or TNBC), 48?% (64/133) had very limited information about the history of cancer in previous generations of their families. Mutations in BRCA1 and BRCA2 or another breast cancer gene occur in one in four African American breast cancer patients with early onset disease, family history of breast or ovarian cancer, or TNBC. Each of these criteria defines patients who would benefit from genomic testing and novel therapies targeting DNA repair pathways.