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Genome-wide association study identifies novel breast cancer susceptibility loci
To identify further susceptibility alleles, a two-stage genome-wide association study in 4,398 breast cancer cases and 4,316 controls was conducted, followed by a third stage in which 30 single nucleotide polymorphisms were tested for confirmation.
A common coding variant in CASP8 is associated with breast cancer risk
It is demonstrated that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies, as well as the need for further studies to confirm putative genetic associations with breast cancer.
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
Strong evidence is found for additional susceptibility loci on 3p and 17q and potential causative genes include SLC4A7 and NEK10 on3p and COX11 on 17q.
Multiple loci with different cancer specificities within the 8q24 gene desert.
- M. Ghoussaini, Honglin Song, A. Dunning
- Medicine, BiologyJournal of the National Cancer Institute
- 2 July 2008
It is concluded that there are at least five separate functional variants in this region that are associated with the risk of prostate, colorectal, and ovarian cancer, but not breast cancer.
IGF1 and IGFBP3 tagging polymorphisms are associated with circulating levels of IGF1, IGFBP3 and risk of breast cancer.
Examination of association of SNPs in the IGF1 and IGFBP3 genes with circulating levels of their gene products in a population-based study of 600 middle-aged men and women and in a breast cancer case-control study suggests that higher IGF1 levels may increase the risk of breast cancer but higher IGF BP3 levels may be protective.
POT1 loss-of-function variants predispose to familial melanoma
It is shown that POT1 variants predispose to melanoma formation via a direct effect on telomeres, disrupting protein-telomere binding and leading to increased telomere length.
Heterogeneity of Breast Cancer Associations with Five Susceptibility Loci by Clinical and Pathological Characteristics
The findings show that common genetic variants influence the pathological subtype of breast cancer and provide further support for the hypothesis that ER-positive and ER-negative disease are biologically distinct.
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Using the Illumina custom genotyping array iCOGs, SNPs at the TERT locus in breast, ovarian and BRCA1 mutation carrier cancer cases and controls and leukocyte telomere measurements are analyzed to find associations cluster into three independent peaks.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
The results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimates of the risks associated with protein-truncating variants, to guide genetic counseling.