Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Autor: Scharf, Florentine, Leal Silva, Rafaela Magalhaes, Morak, Monika, Hastie, Alex, Pickl, Julia M. A., Sendelbach, Kai, Gebhard, Christian, Locher, Melanie, Laner, Andreas, Steinke-Lange, Verena, Koehler, Udo, Holinski-Feder, Elke, Wolf, Dieter A.

Publikováno v: Journal of Medical Genetics; Oct2022, Vol. 59 Issue 10, p976-983, 8p

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

Autor: Barbosa-Matos, Rita^1,2,3 (AUTHOR) amatos@ipatimup.pt, Leal Silva, Rafaela^1,2,4 (AUTHOR) slealrafaela@gmail.com, Garrido, Luzia⁵ (AUTHOR) luzia.garrido@chsj.min-saude.pt, Aguiar, Ana Cerqueira^1,2,6 (AUTHOR) ana.c.aguiar@chedv.min-saude.pt, Garcia-Pelaez, José^1,2,7 (AUTHOR) jpelaez@ipatimup.pt, André, Ana^1,2 (AUTHOR) aandre@ipatimup.pt, Seixas, Susana^1,2 (AUTHOR) sseixas@ipatimup.pt, Sousa, Sónia Passos^1,2 (AUTHOR) ssousa@ipatimup.pt, Ferro, Luísa⁵ (AUTHOR) luisa.ferro@chsj.min-saude.pt, Vilarinho, Lúcia⁵ (AUTHOR) lucia.vilarinho@chsj.min-saude.pt, Gullo, Irene^1,2,5,8 (AUTHOR) irene.gullo12@gmail.com, Devezas, Vitor⁵ (AUTHOR) renata.oliveira@chsj.min-saude.pt, Oliveira, Renata⁵ (AUTHOR) susycosta@sapo.pt, Fernandes, Susana⁸ (AUTHOR), Costa, Susy Cabral^5,8 (AUTHOR) amag1976@gmail.com, Magalhães, André⁵ (AUTHOR) manuela.batista@chsj.min-saude.pt, Baptista, Manuela⁵ (AUTHOR), Carneiro, Fátima^1,2,5,8 (AUTHOR) fcarneiro@ipatimup.pt, Pinheiro, Hugo^1,2,9 (AUTHOR) hpinheiro@ipatimup.pt, Castedo, Sérgio^1,2,5,8 (AUTHOR) scastedo@ipatimup.pt

Publikováno v: Cancers. Sep2021, Vol. 13 Issue 17, p4464. 1p.