Share This Author
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.
Epigenetic differences arise during the lifetime of monozygotic twins.
- M. Fraga, E. Ballestar, M. Esteller
- BiologyProceedings of the National Academy of Sciences…
- 26 July 2005
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.
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.
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
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.
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.
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.
A common coding variant in CASP8 is associated with breast cancer risk
It is demonstrated that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies, as well as the need for further studies to confirm putative genetic associations with breast cancer.
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.
Prediction of BRCA1 Status in Patients with Breast Cancer Using Estrogen Receptor and Basal Phenotype
The use of cytokeratin staining in combination with ER and morphology provides a more accurate predictor of BRCA1 mutation status than previously available, that may be useful in selecting patients for BRCa1 mutation testing.
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.