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Epigenetic differences arise during the lifetime of monozygotic twins.
TLDR
Older monozygous twins exhibited remarkable differences in their overall content and genomic distribution of 5-methylcytosine DNA and histone acetylation, affecting their gene-expression portrait, indicating how an appreciation of epigenetics is missing from the understanding of how different phenotypes can be originated from the same genotype. Expand
Genome-wide association study identifies novel breast cancer susceptibility loci
TLDR
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. Expand
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
TLDR
The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is supported and the lack of functional MAX in rat PCC (PC12) cells is supported, which suggests that loss of MAX function is correlated with metastatic potential. 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
Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A.
TLDR
It is suggested that the G691S and S904S variants of RET have a modifier effect on the age at onset of MEN 2A, and the homozygote status was significantly more prevalent in a series of 110 sporadic thyroid carcinoma, suggesting that these polymorphisms may play a role as a low penetrance risk factor. 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
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