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Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects.
Peixoto A, Pinto P, Guerra J, Pinheiro M, Santos C, Pinto C, Santos R, Escudeiro C, Bartosch C, Canário R, Barbosa A, Gouveia A, Petiz A, Abreu MH, Sousa S, Pereira D, Silva J, Teixeira MR. Peixoto A, et al. Among authors: silva j. Front Oncol. 2020 Jul 31;10:1318. doi: 10.3389/fonc.2020.01318. eCollection 2020. Front Oncol. 2020. PMID: 32850417 Free PMC article.
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: silva j. Genes Chromosomes Cancer. 2019 Sep;58(9):657-664. doi: 10.1002/gcc.22759. Epub 2019 Apr 26. Genes Chromosomes Cancer. 2019. PMID: 30968502
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