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The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families.
Pinheiro M, Francisco I, Pinto C, Peixoto A, Veiga I, Filipe B, Santos C, Maia S, Silva J, Pinto P, Santos R, Claro I, Lage P, Lopes P, Ferreira S, Rosa I, Fonseca R, Rodrigues P, Henrique R, Chaves P, Pereira AD, Brandão C, Albuquerque C, Teixeira MR. Pinheiro M, et al. Among authors: maia s. Genes Chromosomes Cancer. 2019 Sep;58(9):657-664. doi: 10.1002/gcc.22759. Epub 2019 Apr 26. Genes Chromosomes Cancer. 2019. PMID: 30968502
The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.
Brandão A, Paulo P, Maia S, Pinheiro M, Peixoto A, Cardoso M, Silva MP, Santos C, Eeles RA, Kote-Jarai Z, Muir K, Ukgpcs Collaborators, Schleutker J, Wang Y, Pashayan N, Batra J, Apcb BioResource, Grönberg H, Neal DE, Nordestgaard BG, Tangen CM, Southey MC, Wolk A, Albanes D, Haiman CA, Travis RC, Stanford JL, Mucci LA, West CML, Nielsen SF, Kibel AS, Cussenot O, Berndt SI, Koutros S, Sørensen KD, Cybulski C, Grindedal EM, Park JY, Ingles SA, Maier C, Hamilton RJ, Rosenstein BS, Vega A, The Impact Study Steering Committee And Collaborators, Kogevinas M, Wiklund F, Penney KL, Brenner H, John EM, Kaneva R, Logothetis CJ, Neuhausen SL, Ruyck K, Razack A, Newcomb LF, Canary Pass Investigators, Lessel D, Usmani N, Claessens F, Gago-Dominguez M, Townsend PA, Roobol MJ, The Profile Study Steering Committee, The Practical Consortium, Teixeira MR. Brandão A, et al. Among authors: maia s. Cancers (Basel). 2020 Nov 4;12(11):3254. doi: 10.3390/cancers12113254. Cancers (Basel). 2020. PMID: 33158149 Free PMC article.
A Large-Scale Analysis of Genetic Variants within Putative miRNA Binding Sites in Prostate Cancer.
Stegeman S, Amankwah E, Klein K, O'Mara TA, Kim D, Lin HY, Permuth-Wey J, Sellers TA, Srinivasan S, Eeles R, Easton D, Kote-Jarai Z, Amin Al Olama A, Benlloch S, Muir K, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Pharoah P, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Kaneva R, Teixeira MR; PRACTICAL Consortium; Australian Prostate Cancer BioResource; Spurdle AB, Clements JA, Park JY, Batra J. Stegeman S, et al. Cancer Discov. 2015 Apr;5(4):368-79. doi: 10.1158/2159-8290.CD-14-1057. Epub 2015 Feb 17. Cancer Discov. 2015. PMID: 25691096 Free PMC article.
147 results