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19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus
- Source :
- Cancer Research; Vol 72, Cancer Research, Cancer Research, 72(7), 1795-1803. American Association for Cancer Research Inc., Cancer Research, 72(7), 1795-1803
- Publication Year :
- 2012
- Publisher :
- AMER ASSOC CANCER RESEARCH, 2012.
-
Abstract
- The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05–1.15; P = 3.49 × 10−5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13–1.31; P = 2.22 × 10−7). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89–1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18–1.33; P = 3.31 × 10−13]. Thus, 19p13.1 is the first triple-negative–specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways. Cancer Res; 72(7); 1795–803. ©2012 AACR.
- Subjects :
- Oncology
Cancer Research
Receptor, ErbB-2
population
Estrogen receptor
consortium
Genome-wide association study
brca1
ErbB-2
0302 clinical medicine
common variants
Receptors
risk-factors
skin and connective tissue diseases
Progesterone
Triple-negative breast cancer
0303 health sciences
education.field_of_study
Chromosome Mapping
3. Good health
Receptors, Estrogen
030220 oncology & carcinogenesis
Female
Receptors, Progesterone
complex
Receptor
Human
Risk
medicine.medical_specialty
Population
Breast Neoplasms
Genetic Loci
Humans
Chromosomes, Human, Pair 19
Genetic Predisposition to Disease
Biology
Article
Chromosomes
03 medical and health sciences
Breast cancer
SDG 3 - Good Health and Well-being
Internal medicine
Progesterone receptor
medicine
Genetic predisposition
education
030304 developmental biology
Gynecology
Pair 19
tumor subtypes
confer susceptibility
medicine.disease
Estrogen
14q24.1 rad51l1
genome-wide association
Ovarian cancer
Subjects
Details
- Language :
- English
- ISSN :
- 00085472
- Volume :
- 72
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- Cancer Research
- Accession number :
- edsair.doi.dedup.....d97bea7536cffffb027cb52057107ba3
- Full Text :
- https://doi.org/10.1158/0008-5472.CAN-11-3364