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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
TLDR
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. Expand
MADR2 Maps to 18q21 and Encodes a TGFβ–Regulated MAD–Related Protein That Is Functionally Mutated in Colorectal Carcinoma
TLDR
It is demonstrated that MADR2 is specifically regulated by TGFbeta and not bone morphogenetic proteins, and that mutations acquired in colorectal carcinomas may function to disrupt TGF beta signaling. Expand
Association analysis identifies 65 new breast cancer risk loci
TLDR
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. Expand
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
TLDR
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. Expand
Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche
TLDR
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. Expand
Genome-wide association studies identify four ER negative–specific breast cancer risk loci
TLDR
SNPs at four loci were associated with ER-negative but not ER-positive breast cancer (P > 0.05), providing further evidence for distinct etiological pathways associated with invasive ER- positive and ER- negative breast cancers. Expand
Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
TLDR
Pathologic characteristics of BRCA1 and BRCa2 tumors may be useful for improving risk-prediction algorithms and informing clinical strategies for screening and prophylaxis. Expand
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
TLDR
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. Expand
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
TLDR
Using 1000 Genomes Project–imputed genotype data in up to ∼370,000 women, 389 independent signals for age at menarche, a milestone in female pubertal development are identified, highlighting the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility. Expand
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape
TLDR
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. Expand
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