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Three New Breast Cancer Susceptibility SNPs Identified

Monday, January 23, 2012 (Last Updated: 01/24/2012)

MONDAY, Jan. 23 (HealthDay News) -- Three new single nucleotide polymorphisms (SNPs) conferring susceptibility to breast cancer have been identified, according to a letter published online Jan. 22 in Nature Genetics.

Maya Ghoussaini, Ph.D., from the University of Cambridge in the United Kingdom, and colleagues investigated additional loci associated with susceptibility to breast cancer. They performed genotyping to investigate the association for each of 72 SNPs previously associated with breast cancer in 69,564 cases and 68,150 controls from 41 case-control studies and nine genome-wide association studies.

The researchers found three loci significantly associated with breast cancer risk located at 12p11 (rs10771399), 12q24 (rs1292011), and 21q21 (rs2823093). The 12p11 SNP (rs10771399) correlated with similar relative risks for estrogen receptor-positive and estrogen receptor-negative cancer. The other SNPs (rs1292011 and rs2823093) correlated with a higher risk of estrogen receptor-positive cancer.

"The three susceptibility variants newly identified in this study are relatively common (minor allele frequencies of 0.11 to 0.41) and together explain ~0.7 percent of the familial risk of breast cancer and bring the total contribution of common low-penetrance breast cancer susceptibility loci to ~9 percent," the authors write. "The relative risks associated with these variants are modest, with the per-allele odds ratios for the risk alleles ranging from 1.07- to 1.22-fold, but the causal variants underlying some of these loci might confer more substantial risks."

Abstract
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Specialties Hematology & Oncology
OBGYN & Women's Health
Pathology

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