Mutations of the BRAF gene in human cancer
BRAF somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers, with a single substitution (V599E) accounting for 80%.
Genome-wide association study identifies novel breast cancer susceptibility loci
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.
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Patterns of somatic mutation in human cancer genomes
More than 1,000 somatic mutations found in 274 megabases of DNA corresponding to the coding exons of 518 protein kinase genes in 210 diverse human cancers reveal the evolutionary diversity of cancers and implicates a larger repertoire of cancer genes than previously anticipated.
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.
Gene-panel sequencing and the prediction of breast-cancer risk.
An international group of cancer geneticists review the level of evidence for the association of gene variants with the risk of breast cancer. It is difficult to draw firm conclusions from the data…
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.
Lung cancer: Intragenic ERBB2 kinase mutations in tumours
The gene encoding the transmembrane protein tyrosine kinase ERBB2 (also known as HER2 or Neu) is sequenced from 120 primary lung tumours and 4% that have mutations within the kinase domain are identified.
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.
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.