59 research outputs found
Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk
Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored.
Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium.
Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10−4; OR, 1.04; 95% confidence interval (CI), 1.02–1.07] and rs77928427 (P = 1.86 × 10−4; OR, 1.04; 95% CI, 1.02–1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2 ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor–binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue.
Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2.
Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk
Mixed columnar cell and tall cell variant of papillary carcinoma of thyroid: A case report and review of the literature
Pathology324286-289PTLG
Glandular structures in an intraoperative axillary sentinel lymph node biopsy: A diagnostic dilemma [8]
10.1111/j.1365-2559.2005.02273.xHistopathology484475-477HIST
Myelolipoma within a non-functional adrenal cortical adenoma
Singapore Medical Journal487SIMJ
Bronchiolitis obliterans organizing pneumonia following nitric acid fume exposure
10.1093/occmed/kqt147Occupational Medicine642136-138OCME
Cyclooxygenase-2 expression in Warthin's tumour
10.1258/0022215054352117Journal of Laryngology and Otology1197515-518JLOT
Malignant mesenchymoma arising from a uterine leiomyoma in the menopause
10.1016/j.ygyno.2004.08.014Gynecologic Oncology953712-715GYNO
Detection of cutaneous HPV types 4 and 24 DNA sequences in breast carcinoma in Singaporean women of Asian ancestry
10.1080/00313020903041002Pathology415436-442PTLG
Uterine malignant mixed müllerian tumour with pilomatrixoma-like areas [1]
10.1080/00313020310001619208Pathology356532-533PTLG
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