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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
To estimate age-specific risks of breast, ovarian, and contralateral breast cancer for mutation carriers and to evaluate risk modification by family cancer history and mutation location, a large cohort study recruited in 1997-2011 provides estimates of cancer risk based on BRCA1 and BRCa2 mutation carrier status.
Association analysis identifies 65 new breast cancer risk loci
A genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry finds that heritability of Breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome- wide average.
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
A meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, and identified 29,807 SNPs for further genotyping suggests that more than 1,000 additional loci are involved in breast cancer susceptibility.
MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies.
- Xiaohong R. Yang, J. Chang-Claude, M. García-Closas
- MedicineJournal of the National Cancer Institute
- 2 February 2011
It is shown that reproductive factors and BMI are most clearly associated with hormone receptor-positive tumors and suggest that triple-negative or CBP tumors may have distinct etiology.
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape
It is reported that the H3 lysine 36–to-methionine (H3K36M) mutation impairs the differentiation of mesenchymal progenitor cells and generates undifferentiated sarcoma in vivo.
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.
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
- N. Mavaddat, D. Barrowdale, A. Antoniou
- Medicine, BiologyCancer Epidemiology, Biomarkers & Prevention
- 5 December 2011
Pathologic characteristics of BRCA1 and BRCa2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis.
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
15 new loci associated with breast cancer at P < 5 × 10−8 are identified, and one association appears to be driven by an amino acid substitution encoded in EXO1, which is found in women of European ancestry.
Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche
Using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, robust evidence is found for 123 signals at 106 genomic loci associated with age at menarche and a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition is suggested.