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- 2018
- The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
- 2017
- Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
- 2016
- No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
- Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- 2015
- Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers.
- An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
- Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
- Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
- 2014
- Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3