Now showing items 1-16 of 16

    • Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 

      Kelly, MA; Caleshu, C; Morales, A; Buchan, J; Wolf, Z; Harrison, SM; Cook, S; Dillon, MW; Garcia, J; Haverfield, E; Jongbloed, JDH; Macaya, D; Manrai, A; Orland, K; Richard, G; Spoonamore, K; Thomas, M; Thomson, K; Vincent, LM; Walsh, R; Watkins, H; Whiffin, N; Ingles, J; van Tintelen, JP; Semsarian, C; Ware, JS; Hershberger, R; Funke, B (2018-03)
      PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ...
    • Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. 

      Hamdi, Y; Soucy, P; Adoue, V; Michailidou, K; Canisius, S; Lemaçon, A; Droit, A; Andrulis, IL; Anton-Culver, H; Arndt, V; Baynes, C; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Bolla, MK; Bonanni, B; Borresen-Dale, A-L; Brand, JS; Brauch, H; Brenner, H; Broeks, A; Burwinkel, B; Chang-Claude, J; NBCS Collaborators; Couch, FJ; Cox, A; Cross, SS; Czene, K; Darabi, H; Dennis, J; Devilee, P; Dörk, T; Dos-Santos-Silva, I; Eriksson, M; Fasching, PA; Figueroa, J; Flyger, H; García-Closas, M; Giles, GG; Goldberg, MS; González-Neira, A; Grenaker-Alnæs, G; Guénel, P; Haeberle, L; Haiman, CA; Hamann, U; Hallberg, E; Hooning, MJ; Hopper, JL; Jakubowska, A; Jones, M; Kabisch, M; Kataja, V; Lambrechts, D; Le Marchand, L; Lindblom, A; Lubinski, J; Mannermaa, A; Maranian, M; Margolin, S; Marme, F; Milne, RL; Neuhausen, SL; Nevanlinna, H; Neven, P; Olswold, C; Peto, J; Plaseska-Karanfilska, D; Pylkäs, K; Radice, P; Rudolph, A; Sawyer, EJ; Schmidt, MK; Shu, X-O; Southey, MC; Swerdlow, A; Tollenaar, RAEM; Tomlinson, I; Torres, D; Truong, T; Vachon, C; Van Den Ouweland, AMW; Wang, Q; Winqvist, R; kConFab/AOCS Investigators; Zheng, W; Benitez, J; Chenevix-Trench, G; Dunning, AM; Pharoah, PDP; Kristensen, V; Hall, P; Easton, DF; Pastinen, T; Nord, S; Simard, J (2016-12-06)
      There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory ...
    • Between-region genetic divergence reflects the mode and tempo of tumor evolution. 

      Sun, R; Hu, Z; Sottoriva, A; Graham, TA; Harpak, A; Ma, Z; Fischer, JM; Shibata, D; Curtis, C (2017-07)
      Given the implications of tumor dynamics for precision medicine, there is a need to systematically characterize the mode of evolution across diverse solid tumor types. In particular, methods to infer the role of natural ...
    • Circulating Cell-Free DNA to Guide Prostate Cancer Treatment with PARP Inhibition. 

      Goodall, J; Mateo, J; Yuan, W; Mossop, H; Porta, N; Miranda, S; Perez-Lopez, R; Dolling, D; Robinson, DR; Sandhu, S; Fowler, G; Ebbs, B; Flohr, P; Seed, G; Rodrigues, DN; Boysen, G; Bertan, C; Atkin, M; Clarke, M; Crespo, M; Figueiredo, I; Riisnaes, R; Sumanasuriya, S; Rescigno, P; Zafeiriou, Z; Sharp, A; Tunariu, N; Bianchini, D; Gillman, A; Lord, CJ; Hall, E; Chinnaiyan, AM; Carreira, S; de Bono, JS; TOPARP-A investigators (2017-09)
      Biomarkers for more precise patient care are needed in metastatic prostate cancer. We have reported a phase II trial (TOPARP-A) of the PARP inhibitor olaparib in metastatic prostate cancer, demonstrating antitumor activity ...
    • Efficient Genotyping of KRAS Mutant Non-Small Cell Lung Cancer Using a Multiplexed Droplet Digital PCR Approach. 

      Pender, A; Garcia-Murillas, I; Rana, S; Cutts, RJ; Kelly, G; Fenwick, K; Kozarewa, I; Gonzalez de Castro, D; Bhosle, J; O'Brien, M; Turner, NC; Popat, S; Downward, J (2015-01)
      Droplet digital PCR (ddPCR) can be used to detect low frequency mutations in oncogene-driven lung cancer. The range of KRAS point mutations observed in NSCLC necessitates a multiplex approach to efficient mutation detection ...
    • An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. 

      Ellison, G; Ahdesmäki, M; Luke, S; Waring, PM; Wallace, A; Wright, R; Röthlisberger, B; Ludin, K; Merkelbach-Bruse, S; Heydt, C; Ligtenberg, MJL; Mensenkamp, AR; de Castro, DG; Jones, T; Vivancos, A; Kondrashova, O; Pauwels, P; Weyn, C; Hahnen, E; Hauke, J; Soong, R; Lai, Z; Dougherty, B; Carr, TH; Johnson, J; Mills, J; Barrett, JC (2018-03)
      Ovarian cancer patients with germline or somatic pathogenic variants benefit from treatment with poly ADP ribose polymerase (PARP) inhibitors. Tumor BRCA1/2 testing is more challenging than germline testing as the majority ...
    • Genome-wide homozygosity signature and risk of Hodgkin lymphoma. 

      Sud, A; Cooke, R; Swerdlow, AJ; Houlston, RS (2015-01)
      Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated ...
    • Identification of neutral tumor evolution across cancer types. 

      Williams, MJ; Werner, B; Barnes, CP; Graham, TA; Sottoriva, A (2016-03)
      Despite extraordinary efforts to profile cancer genomes, interpreting the vast amount of genomic data in the light of cancer evolution remains challenging. Here we demonstrate that neutral tumor evolution results in a ...
    • Identification of nine new susceptibility loci for endometrial cancer. 

      O'Mara, TA; Glubb, DM; Amant, F; Annibali, D; Ashton, K; Attia, J; Auer, PL; Beckmann, MW; Black, A; Bolla, MK; Brauch, H; Brenner, H; Brinton, L; Buchanan, DD; Burwinkel, B; Chang-Claude, J; Chanock, SJ; Chen, C; Chen, MM; Cheng, THT; Clarke, CL; Clendenning, M; Cook, LS; Couch, FJ; Cox, A; Crous-Bous, M; Czene, K; Day, F; Dennis, J; Depreeuw, J; Doherty, JA; Dörk, T; Dowdy, SC; Dürst, M; Ekici, AB; Fasching, PA; Fridley, BL; Friedenreich, CM; Fritschi, L; Fung, J; García-Closas, M; Gaudet, MM; Giles, GG; Goode, EL; Gorman, M; Haiman, CA; Hall, P; Hankison, SE; Healey, CS; Hein, A; Hillemanns, P; Hodgson, S; Hoivik, EA; Holliday, EG; Hopper, JL; Hunter, DJ; Jones, A; Krakstad, C; Kristensen, VN; Lambrechts, D; Marchand, LL; Liang, X; Lindblom, A; Lissowska, J; Long, J; Lu, L; Magliocco, AM; Martin, L; McEvoy, M; Meindl, A; Michailidou, K; Milne, RL; Mints, M; Montgomery, GW; Nassir, R; Olsson, H; Orlow, I; Otton, G; Palles, C; Perry, JRB; Peto, J; Pooler, L; Prescott, J; Proietto, T; Rebbeck, TR; Risch, HA; Rogers, PAW; Rübner, M; Runnebaum, I; Sacerdote, C; Sarto, GE; Schumacher, F; Scott, RJ; Setiawan, VW; Shah, M; Sheng, X; Shu, X-O; Southey, MC; Swerdlow, AJ; Tham, E; Trovik, J; Turman, C; Tyrer, JP; Vachon, C; VanDen Berg, D; Vanderstichele, A; Wang, Z; Webb, PM; Wentzensen, N; Werner, HMJ; Winham, SJ; Wolk, A; Xia, L; Xiang, Y-B; Yang, HP; Yu, H; Zheng, W; Pharoah, PDP; Dunning, AM; Kraft, P; De Vivo, I; Tomlinson, I; Easton, DF; Spurdle, AB; Thompson, DJ (2018-08-09)
      Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial ...
    • Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. 

      Ruark, E; Seal, S; McDonald, H; Zhang, F; Elliot, A; Lau, K; Perdeaux, E; Rapley, E; Eeles, R; Peto, J; Kote-Jarai, Z; Muir, K; Nsengimana, J; Shipley, J; Bishop, DT; Stratton, MR; Easton, DF; Huddart, RA; Rahman, N; Turnbull, C (2013-06)
      Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) ...
    • Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene. 

      Litchfield, K; Loveday, C; Levy, M; Dudakia, D; Rapley, E; Nsengimana, J; Bishop, DT; Reid, A; Huddart, R; Broderick, P; Houlston, RS; Turnbull, C (2018-06)
      Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ...
    • Neutral tumor evolution in myeloma is associated with poor prognosis. 

      Johnson, DC; Lenive, O; Mitchell, J; Jackson, G; Owen, R; Drayson, M; Cook, G; Jones, JR; Pawlyn, C; Davies, FE; Walker, BA; Wardell, C; Gregory, WM; Cairns, D; Morgan, GJ; Houlston, RS; Kaiser, MF (2017-10-05)
      Recent studies suggest that the evolutionary history of a cancer is important in forecasting clinical outlook. To gain insight into the clonal dynamics of multiple myeloma (MM) and its possible influence on patient outcomes, ...
    • Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer. 

      Orlando, G; Law, PJ; Cornish, AJ; Dobbins, SE; Chubb, D; Broderick, P; Litchfield, K; Hariri, F; Pastinen, T; Osborne, CS; Taipale, J; Houlston, RS (2018-10)
      Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the ...
    • Reply: Uncertainties in tumor allele frequencies limit power to infer evolutionary pressures. 

      Williams, MJ; Werner, B; Barnes, CP; Graham, TA; Sottoriva, A (2017-08-30)
    • Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry. 

      Conti, DV; Wang, K; Sheng, X; Bensen, JT; Hazelett, DJ; Cook, MB; Ingles, SA; Kittles, RA; Strom, SS; Rybicki, BA; Nemesure, B; Isaacs, WB; Stanford, JL; Zheng, W; Sanderson, M; John, EM; Park, JY; Xu, J; Stevens, VL; Berndt, SI; Huff, CD; Wang, Z; Yeboah, ED; Tettey, Y; Biritwum, RB; Adjei, AA; Tay, E; Truelove, A; Niwa, S; Sellers, TA; Yamoah, K; Murphy, AB; Crawford, DC; Gapstur, SM; Bush, WS; Aldrich, MC; Cussenot, O; Petrovics, G; Cullen, J; Neslund-Dudas, C; Stern, MC; Jarai, Z-K; Govindasami, K; Chokkalingam, AP; Hsing, AW; Goodman, PJ; Hoffmann, T; Drake, BF; Hu, JJ; Clark, PE; Van Den Eeden, SK; Blanchet, P; Fowke, JH; Casey, G; Hennis, AJM; Han, Y; Lubwama, A; Thompson, IM; Leach, R; Easton, DF; Schumacher, F; Van den Berg, DJ; Gundell, SM; Stram, A; Wan, P; Xia, L; Pooler, LC; Mohler, JL; Fontham, ETH; Smith, GJ; Taylor, JA; Srivastava, S; Eeles, RA; Carpten, J; Kibel, AS; Multigner, L; Parent, M-E; Menegaux, F; Cancel-Tassin, G; Klein, EA; Brureau, L; Stram, DO; Watya, S; Chanock, SJ; Witte, JS; Blot, WJ; Henderson, BE; Haiman, CA; PRACTICAL/ELLIPSE Consortium (2017-08-01)
      Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this disparity are unknown and potentially consist of social, environmental, and genetic influences. ...
    • Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk. 

      Crowther-Swanepoel, D; Mansouri, M; Enjuanes, A; Vega, A; Smedby, KE; Ruiz-Ponte, C; Jurlander, J; Juliusson, G; Montserrat, E; Catovsky, D; Campo, E; Carracedo, A; Rosenquist, R; Houlston, RS (2010-08)
      A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1 (rs13397985), 6p25.3 (rs872071), 11q24.1 (rs735665), 15q23 (rs7176508) and ...