Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, et al
. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015;17:61 pubmed publisher
..This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. ..
Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al
. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
Osorio A, Barroso A, Garcia M, Martinez Delgado B, Urioste M, Benitez J. Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility. Breast Cancer Res Treat. 2009;113:371-6 pubmed publisher
..Our analysis suggests that RAP80 and CCDC98 do not play an important role as high penetrance breast cancer susceptibility genes. ..
Osorio A, Milne R, Pita G, Peterlongo P, Heikkinen T, Simard J, et al
. Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). Br J Cancer. 2009;101:2048-54 pubmed publisher
..93-1.04, P = 0.5) or BRCA2 (per-allele HR: 0.97, 95% CI: 0.89-1.06, P = 0.5) mutation carriers. This SNP is not a significant modifier of breast cancer risk for mutation carriers, though weak associations cannot be ruled out. ..
Osorio A, Milne R, Alonso R, Pita G, Peterlongo P, Teulé A, et al
. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. Br J Cancer. 2011;104:1356-61 pubmed publisher
..No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers. ..
Osorio A, Endt D, Fernandez F, Eirich K, de la Hoya M, Schmutzler R, et al
. Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. Hum Mol Genet. 2012;21:2889-98 pubmed publisher
Tavera Tapia A, Perez Cabornero L, Macias J, Ceballos M, Roncador G, De La Hoya M, et al
. Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. Breast Cancer Res Treat. 2017;161:597-604 pubmed publisher
..ATM mutation prevalence in Spanish population highlights the importance of considering ATM pathogenic variants linked to breast cancer susceptibility. ..