XPC and POLH/XPV Genes Mutated in a Genetic Cluster of Xeroderma Pigmentosum Patients in Northeast Brazil

Authors: Ligia Pereira Castro, Danilo Batista-Vieira, Tiago Antonio de Souza, Ana Rafaela de Souza Timoteo, Jessica Dayanna Landivar Coutinho, Isabel Cristina Pinheiro de Almeida, Sheila Ramos de Miranda Henriques, Fabio Medeiros de Azevedo, Reginaldo Cruz Alves Rosa, Patricia L Kannouche, Alain Sarasin, Carlos Frederico Martins Menck, Tirzah Braz Petta

Source: Frontiers in Genetics, Vol 12 (2022)

Subject Terms: genetic cluster, xeroderma pigmentosum, molecular diagnosis, DNA repair, skin cancer, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.784963/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/f25b319a39694d058ff782d4ec67f61e

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

Authors: Simone da Costa e Silva Carvalho, Nathalia Moreno Cury, Danielle Barbosa Brotto, Luiza Ferreira de Araujo, Reginaldo Cruz Alves Rosa, Lorena Alves Texeira, Jessica Rodrigues Plaça, Adriana Aparecida Marques, Kamila Chagas Peronni, Patricia de Cássia Ruy, Greice Andreotti Molfetta, Julio Cesar Moriguti, Dirce Maria Carraro, Edenir Inêz Palmero, Patricia Ashton-Prolla, Victor Evangelista de Faria Ferraz, Wilson Araujo Silva Jr

Source: BMC Medical Genomics, Vol 13, Iss 1, Pp 1-24 (2020)

Subject Terms: HBOC, DNA repair genes, Multi-gene panel screening, Next-generation sequencing, Molecular diagnosis, BRCA1, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/7017c847d5db4a25b8ac154488e75410

First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene

Authors: Reginaldo Cruz Alves Rosa, Andrey A. Yurchenko, Fernando Chahud, Alfredo Ribeiro-Silva, Mariângela Ottoboni Brunaldi, Wilson Araújo Silva Jr, Patricia L. Kannouche, Sergey Nikolaev, Victor Evangelista de Faria Ferraz

Source: Genetics and Molecular Biology

Subject Terms: Endometrial cancer, POLE exonuclease mutation, Targeted sequencing, TMB, Ultramutated phenotype, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.scielo.br/pdf/gmb/v43n4/1415-4757-GMB-43-4-e20200100.pdf; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000600101&tlng=en; https://doaj.org/toc/1678-4685

Access URL: https://doaj.org/article/428b2d86ee624fcf94b8e4eead1d0e21