Now showing items 1-5 of 5

    • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 

      Kuchenbaecker, Karoline Bernhardine; Neuhausen, Susan L; Robson, Mark; Barrowdale, Daniel; McGuffog, Lesley; Mulligan, Anna Marie; Andrulis, Irene L et al. (BioMed Central, 2014-12-31)
      Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are ...
    • 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 ...
    • Germline ESR2 Mutation Predisposes to Medullary Thyroid Carcinoma and Causes Up-Regulation of RET Expression 

      Smith, Joel; Read, Martin; Hoffman, Jon; Brown, Rachel; Bradshaw, Beth; Campbell, Christopher; Cole, Trevor et al. (Oxford University Press, 2016-03-03)
      Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2. However, some rare families with apparent MTC/CCH ...
    • 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 ...