Now showing items 1-20 of 21

    • The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1and BRCA2mutation carriers 

      Spurdle, Amanda B; Antoniou, Antonis; Duffy, David L; Pandeya, Nirmala; Kelemen, Livia; Chen, Xiaoqing; Peock, Susan et al. (2004-12-16)
      Abstract Introduction The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have ...
    • Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: a combined case-control study 

      Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B; Fasching, Peter A; Couch, Fergus J; Benitez, Javier; Arias, Perez Jose Ignacio et al. (2010-12-31)
      Abstract Introduction Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence ...
    • Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. 

      Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B; Pastinen, Tomi; Droit, Arnaud; Lemaçon, Audrey; Adlard, Julian et al. (Springer, 2017-01)
      $\textit{Purpose}$ $\textit{Cis}$-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate ...
    • 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 ...
    • Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk 

      Carvajal-Carmona, Luis G; O’Mara, Tracy A; Painter, Jodie N; Lose, Felicity A; Dennis, Joe; Michailidou, Kyriaki; Tyrer, Jonathan P et al. (Springer Berlin Heidelberg, 2014-12-09)
      Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with ...
    • Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms 

      de, la Hoya Miguel; Soukarieh, Omar; López-Perolio, Irene; Vega, Ana; Walker, Logan C; van, Ierland Yvette; Baralle, Diana et al. (Oxford University Press, 2016-03-23)
      A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays ...
    • Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. 

      Mulligan, Anna Marie; Couch, Fergus J; Barrowdale, Daniel; Domchek, Susan M; Eccles, Diana; Nevanlinna, Heli; Ramus, Susan J et al. (2011-11-02)
      Abstract Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently ...
    • A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding 

      Painter, Jodie N; Kaufmann, Susanne; O’Mara, Tracy A; Hillman, Kristine M; Sivakumaran, Haran; Darabi, Hatef; Cheng, Timothy HT et al. (Elsevier (Cell Press), 2016)
      A recent meta-analysis of multiple genome-wide association and follow-up endometrial cancer case-control datasets identified a novel genetic risk locus for this disease at chromosome 14q32.33. To prioritize the functional ...
    • Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer 

      O'Mara, Tracy A; Glubb, Dylan M; Painter, Jodie N; Cheng, Timothy; Dennis, Joe; Australian, National Endometrial Cancer Study Group (ANECS); Attia, John et al. (Society for Endocrinology, 2015-08-30)
      Excessive exposure to estrogen is a well-established risk factor for endometrial cancer (EC), particularly for cancers of endometrioid histology. The physiological function of estrogen is primarily mediated by estrogen ...
    • CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. 

      Thompson, Deborah Jane; O’Mara, Tracy A; Glubb, Dylan M; Painter, Jodie N; Cheng, Timothy; Folkerd, Elizabeth; Doody, Deborah et al. (Bioscientifica, 2015-11-16)
      Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol concentrations. We analysed 2,937 SNPs in 6,608 endometrial cancer cases and 37,925 controls and report the ...
    • 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 ...
    • Evidence of a causal association between insulinemia and endometrial cancer: A Mendelian randomization analysis 

      Nead, Kevin T; Sharp, Stephen John; Thompson, Deborah Jane; Painter, Jodie N; Savage, David Bousfield; Semple, Robert Kenneth; Barker, Adam et al. (Oxford University Press, 2015)
      Background: Insulinemia and type 2 diabetes (T2D) have been associated with endometrial cancer risk in numerous observational studies. However, the causality of these associations is uncertain. Here we use a Mendelian ...
    • 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-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk 

      Painter, Jodie N; O’Mara, Tracy A; Batra, Jyotsna; Cheng, Timothy; Lose, Felicity A; Dennis, Joe; Michailidou, Kyriaki et al. (Oxford Journals, 2014-11-06)
      Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or ...
    • Five endometrial cancer risk loci identified through genome-wide association analysis 

      Cheng, Timothy HT; Thompson, Deborah Jane; O’Mara, Tracy A; Painter, Jodie N; Glubb, Dylan M; Flach, Susanne; Lewis, Annabelle et al. (Nature Publishing Group, 2016-05-02)
      We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation ...
    • Genetic risk score Mendelian randomization shows obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer 

      Painter, Jodie N; O’Mara, Tracy A; Marquart, Louise; Webb, Penelope M; for, the AOCS Group; Attia, John; Medland, Sarah E et al. (American Association for Cancer Research, 2016-08-22)
      $\textbf{Background:}$ The strongest known risk factor for endometrial cancer (EC) is obesity. To determine whether single nucleotide polymorphisms (SNPs) associated with increased body mass index (BMI) or waist-hip ratio ...
    • GWAS meta-analysis of 16,852 women identifies new susceptibility locus for endometrial cancer. 

      Chen, Maxine M; O'Mara, Tracy A; Thompson, Deborah Jane; Painter, Jodie N; The, Australian National Endometrial Cancer Study Group (ANECS); Attia, John; Black, Amanda et al. (Oxford University Press, 2016-03-23)
      Endometrial cancer is the most common gynecological malignancy in the developed world. Although there is evidence of genetic predisposition to the disease, most of the genetic risk remains unexplained. We present the ...
    • A Kallikrein 15 (KLK15) single nucleotide polymorphism located close to a novel exon shows evidence of association with poor ovarian cancer survival 

      Batra, Jyotsna; Nagle, Christina M; O'Mara, Tracy; Higgins, Melanie; Dong, Ying; Tan, Olivia L; Lose, Felicity et al. (2011-04-01)
      Abstract Background KLK15 over-expression is reported to be a significant predictor of reduced progression-free survival and overall survival in ovarian cancer. Our aim was to analyse the KLK15 gene for putative functional ...
    • 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 ...
    • The OncoArray Consortium: a Network for Understanding the Genetic Architecture of Common Cancers 

      Amos, Christopher I; Dennis, Joe; Wang, Zhaoming; Byun, Jinyoung; Schumacher, Fredrick R; Gayther, Simon A; Casey, Graham et al. (American Association for Cancer Research, 2016-10-03)
      Background: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an ...