| Title |
Genetic variants associated with breast size also influence breast cancer risk
|
|---|---|
| Published in |
BMC Medical Genomics, June 2012
|
| DOI | 10.1186/1471-2350-13-53 |
| Pubmed ID | |
| Authors |
Nicholas Eriksson, Geoffrey M Benton, Chuong B Do, Amy K Kiefer, Joanna L Mountain, David A Hinds, Uta Francke, Joyce Y Tung |
| Abstract |
While some factors of breast morphology, such as density, are directly implicated in breast cancer, the relationship between breast size and cancer is less clear. Breast size is moderately heritable, yet the genetic variants leading to differences in breast size have not been identified. To investigate the genetic factors underlying breast size, we conducted a genome-wide association study (GWAS) of self-reported bra cup size, controlling for age, genetic ancestry, breast surgeries, pregnancy history and bra band size, in a cohort of 16,175 women of European ancestry. We identified seven single-nucleotide polymorphisms (SNPs) significantly associated with breast size (p<5.10(-8)): rs7816345 near ZNF703, rs4849887 and (independently) rs17625845 flanking INHBB, rs12173570 near ESR1, rs7089814 in ZNF365, rs12371778 near PTHLH, and rs62314947 near AREG. Two of these seven SNPs are in linkage disequilibrium (LD) with SNPs associated with breast cancer (those near ESR1 and PTHLH), and a third (ZNF365) is near, but not in LD with, a breast cancer SNP. The other three loci (ZNF703, INHBB, and AREG) have strong links to breast cancer, estrogen regulation, and breast development. These results provide insight into the genetic factors underlying normal breast development and show that some of these factors are shared with breast cancer. While these results do not directly support any possible epidemiological relationships between breast size and cancer, this study may contribute to a better understanding of the subtle interactions between breast morphology and breast cancer risk. |
X Demographics
The data shown below were collected from the profiles of 118 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 30 | 25% |
| Japan | 8 | 7% |
| Australia | 6 | 5% |
| Canada | 5 | 4% |
| United Kingdom | 5 | 4% |
| Thailand | 4 | 3% |
| Netherlands | 2 | 2% |
| Ireland | 1 | <1% |
| France | 1 | <1% |
| Other | 9 | 8% |
| Unknown | 47 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 90 | 76% |
| Scientists | 24 | 20% |
| Practitioners (doctors, other healthcare professionals) | 3 | 3% |
| Science communicators (journalists, bloggers, editors) | 1 | <1% |
Mendeley readers
The data shown below were compiled from readership statistics for 124 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 2% |
| Norway | 1 | <1% |
| Brazil | 1 | <1% |
| United Kingdom | 1 | <1% |
| Canada | 1 | <1% |
| Uruguay | 1 | <1% |
| Nigeria | 1 | <1% |
| Egypt | 1 | <1% |
| Japan | 1 | <1% |
| Other | 1 | <1% |
| Unknown | 112 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 27 | 22% |
| Student > Ph. D. Student | 18 | 15% |
| Student > Master | 14 | 11% |
| Student > Bachelor | 14 | 11% |
| Other | 11 | 9% |
| Other | 27 | 22% |
| Unknown | 13 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 40 | 32% |
| Medicine and Dentistry | 30 | 24% |
| Biochemistry, Genetics and Molecular Biology | 18 | 15% |
| Nursing and Health Professions | 6 | 5% |
| Computer Science | 3 | 2% |
| Other | 16 | 13% |
| Unknown | 11 | 9% |
Attention Score in Context
This research output has an Altmetric Attention Score of 139. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 04 May 2024.
All research outputs
#306,593
of 25,846,867 outputs
Outputs from BMC Medical Genomics
#10
of 2,461 outputs
Outputs of similar age
#1,369
of 177,812 outputs
Outputs of similar age from BMC Medical Genomics
#1
of 38 outputs
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