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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
Mutations of the VHL tumour suppressor gene in renal carcinoma
TLDR
The identification of VHL mutations in a majority of localized and advanced sporadic renal carcinomas and in a second form of hereditary renal carcinoma indicates that the VHL gene plays a critical part in the origin of this malignancy. Expand
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
TLDR
The results suggest that missense mutations located in the MET proto-oncogene lead to constitutive activation of the MET protein and papillary renal carcinomas. 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
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
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
TLDR
Mutation prevalence estimates suggest that patients with TNBC, regardless of age at diagnosis or family history of cancer, should be considered for germline genetic testing of BRCA1 and BRCa2. Expand
Activity Levels of Tamoxifen Metabolites at the Estrogen Receptor and the Impact of Genetic Polymorphisms of Phase I and II Enzymes on Their Concentration Levels in Plasma
TLDR
Among the poor metabolizers, 93% had (Z)‐endoxifen levels below IC90 values, underscoring the role of CYP2D6 deficiency in compromised tamoxIFen bioactivation, and carriers of reduced‐function CYp2C9 (*2, *3) alleles had lower plasma concentrations of active metabolites (P < 0.004), pointing to the roleof additional pathways. Expand
A New Molecular Predictor of Distant Recurrence in ER-Positive, HER2-Negative Breast Cancer Adds Independent Information to Conventional Clinical Risk Factors
TLDR
A gene expression signature predicting the likelihood of distant recurrence in patients with estrogen receptor–positive, HER2-negative breast cancer treated with adjuvant endocrine therapy is developed and validated. Expand
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan
TLDR
The catalog of VHL germline mutations with phenotype information should be useful for diagnostic and prognostic studies of V HL and for studies of genotype‐phenotype correlations in VHL. Expand
Breast cancer treatment outcome with adjuvant tamoxifen relative to patient CYP2D6 and CYP2C19 genotypes.
TLDR
Because genetically determined, impaired tamoxifen metabolism results in worse treatment outcomes, genotyping for CYP2D6 alleles *4, *5, *10, and *41 can identify patients who will have little benefit from adjuvant tamoxIFen therapy. Expand
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