Now showing items 9-11 of 11

    • 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 ...