Peterlongo P, Chang Claude J, Moysich K, Rudolph A, Schmutzler R, Simard J, et al
. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015;24:308-16 pubmed publisher
..Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. ..
Johnson N, Dudbridge F, Orr N, Gibson L, Jones M, Schoemaker M, et al
. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. Breast Cancer Res. 2014;16:R51 pubmed publisher
..These associations are likely mediated via an effect on circulating hormone levels. ..
Pirie A, Guo Q, Kraft P, Canisius S, Eccles D, Rahman N, et al
. Common germline polymorphisms associated with breast cancer-specific survival. Breast Cancer Res. 2015;17:58 pubmed publisher
..Larger studies from multinational collaborations are necessary to increase the power to detect associations, between common variants and prognosis, at more stringent significance levels. ..
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. ..
Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, et al
. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum Mol Genet. 2015;24:5345-55 pubmed publisher
..In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer. ..
Petridis C, Brook M, Shah V, Kohut K, Gorman P, Caneppele M, et al
. Genetic predisposition to ductal carcinoma in situ of the breast. Breast Cancer Res. 2016;18:22 pubmed publisher
..0x10(-8). In conclusion, this study provides the strongest evidence to date of a shared genetic susceptibility for IDC and DCIS. Studies with larger numbers of DCIS are needed to determine if IDC or DCIS specific loci exist. ..