Now showing items 5-11 of 11

    • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers 

      Maia, Ana Teresa; Antoniou, Antonis; O'Reilly, Martin; Samarajiwa, Shamith Anusha; Dunning, Mark James; Kartsonaki, Christiana; Chin, Suet Feung et al. (2012-04-18)
      Abstract Introduction Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type ...
    • Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers 

      Walker, Logan C; Fredericksen, Zachary S; Wang, Xianshu; Tarrell, Robert; Pankratz, Vernon Shane; Lindor, Noralane M; Beesley, Jonathan et al. (2010-11-29)
      Abstract Introduction Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide ...
    • Exploring the link between MORF4L1 and risk of breast cancer 

      Martrat, Griselda; Maxwell, Christopher A; Tominaga, Emiko; Porta, Montserrat; Bonifaci, Nuria; Gomez-Baldo, Laia; Bogliolo, Massimo et al. (2011-04-05)
      Abstract Introduction Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its ...
    • Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers 

      Vigorito, Elena; Kuchenbaecker, Karoline B; Beesley, Jonathan; Adlard, Julian; Agnarsson, Bjarni A; Andrulis, Irene L; Arun, Banu K et al. (Public Library of Science, 2016-07-27)
      Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ mutation ...
    • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 

      Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith et al. (Wiley-Blackwell, 2018-05)
      The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians in Europe and North America. The Consortium of Investigators ...
    • Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study. 

      Girardi, Fabio; Barnes, Daniel Robert; Barrowdale, Daniel; Frost, Debra; Brady, Angela F; Miller, Claire; Henderson, Alex et al. (Wolters Kluwer Health, 2018-03-22)
      Purpose. BRCA1/BRCA2 predictive test negatives are proven non-carriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these ...
    • Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. 

      Andrews, Katrina; Ascher, David Benjamin; Pires, Douglas Eduardo Valente; Barnes, Daniel Robert; Vialard, Lindsey; Casey, Ruth T; Bradshaw, Nicola et al. (British Medical Association, 2018-01-31)
      Background:Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum ...