1 to 10 of 62 literature results

• Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers.

  Basal-like breast cancers arising in women carrying mutations in the BRCA1 gene, encoding the tumor suppressor protein BRCA1, are thought to develop f…

  Authors: Elgene Lim, François Vaillant, Di Wu, Natasha C Forrest, Bhupinder Pal, Adam H Hart, Marie-Liesse Asselin-Labat, David E Gyorki, Teresa Ward, Audrey Partanen,…

  Source: Nature medicine. 2009 Aug

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• Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

  AIMS: In recent years histopathology has made an important contribution to the study of familial breast cancer, largely on the basis of the distinctiv…

  Authors: Maurice Loughrey, Pamela J Provan, Karen Byth, kConFab Investigators, Rosemary L Balleine

  Source: Pathology. 2008 Jun

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• DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status.

  It is now understood that epigenetic alterations occur frequently in sporadic breast carcinogenesis, but little is known about the epigenetic alterati…

  Authors: James M Flanagan, Sibylle Cocciardi, Nic Waddell, Cameron N Johnstone, Anna Marsh, Stephen Henderson, Peter Simpson, Leonard da Silva, kConFab Investigators, Kumkum Khanna,…

  Source: American journal of human genetics. 2010 Mar 12

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• Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.

  Although in vitro splicing assays can provide useful information about the clinical interpretation of sequence variants in high-risk cancer genes such…

  Authors: Amanda B Spurdle, Sunil R Lakhani, Leonard M Da Silva, Rosemary L Balleine, kConFab Investigators, David E Goldgar

  Source: Human mutation. 2010 Feb

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• Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

  Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familia…

  Authors: Shahana Ahmed, Gilles Thomas, Maya Ghoussaini, Catherine S Healey, Manjeet K Humphreys, Radka Platte, Jonathan Morrison, Melanie Maranian, Karen A Pooley, Robert Luben,…

  Source: Nature genetics. 2009 May

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• Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

  The susceptibility gene for ataxia telangiectasia, ATM, is also an intermediate-risk breast-cancer-susceptibility gene. However, the spectrum and freq…

  Authors: Sean V Tavtigian, Peter J Oefner, Davit Babikyan, Anne Hartmann, Sue Healey, Florence Le Calvez-Kelm, Fabienne Lesueur, Graham B Byrnes, Shu-Chun Chuang, Nathalie Forey,…

  Source: American journal of human genetics. 2009 Oct

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• BRCA1 tumours correlate with a HIF-1alpha phenotype and have a poor prognosis through modulation of hydroxylase enzyme profile expression.

  BACKGROUND: There are limited data regarding the hypoxia pathway in familial breast cancers. We therefore performed a study of hypoxic factors in BRCA…

  Authors: M Yan, M Rayoo, E A Takano, H Thorne, KConFab Investigators, S B Fox

  Source: British journal of cancer. 2009 Oct 6

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• Genome-wide association study identifies novel breast cancer susceptibility loci.

  Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account fo…

  Authors: Douglas F Easton, Karen A Pooley, Alison M Dunning, Paul D P Pharoah, Deborah Thompson, Dennis G Ballinger, Jeffery P Struewing, Jonathan Morrison, Helen Field, Robert Luben,…

  Source: Nature. 2007 Jun 28

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• Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

  Inherited BRCA1/2 mutations confer elevated ovarian cancer risk. Knowledge of factors that can improve ovarian cancer risk assessment in BRCA1/2 mutat…

  Authors: Timothy R Rebbeck, Nandita Mitra, Susan M Domchek, Fei Wan, Shannon Chuai, Tara M Friebel, Saarene Panossian, Amanda Spurdle, Georgia Chenevix-Trench, kConFab,…

  Source: Cancer research. 2009 Jul 15

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• Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

  Mutation scanning using high-resolution melting curve analysis (HR-melt) is an effective and sensitive method to detect sequence variations. However, …

  Authors: Tú Nguyen-Dumont, Florence Le Calvez-Kelm, Nathalie Forey, Sandrine McKay-Chopin, Sonia Garritano, Lydie Gioia-Patricola, Deepika De Silva, Ron Weigel, Suleeporn Sangrajrang, Fabienne Lesueur,…

  Source: Human mutation. 2009 Jun

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