Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients-Reference-Cited by-同舟云学术

Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients

Published:2024-06-20 Issue: Volume: Page:
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Segura Anthony Vladimir Campos,da Silva Sara Iolanda Oliveira,Santiago Karina Miranda,Brianese Rafael Canfield,Carraro Dirce Maria,Torrezan Giovana Tardin^ORCID

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10689-024-00411-1.pdf

Reference19 articles.

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2. Soto JL, Blanco I, Díez O et al (2018) Documento De consenso sobre la implementación de la secuenciación masiva de nueva generación en El diagnóstico genético de la predisposición hereditaria al cáncer. Med Clin (Barc) 151:80.e1–80.e10

3. Blount J, Prakash A (2018) The changing landscape of Lynch syndrome due to PMS2 mutations. Clin Genet 94:61–69. https://doi.org/10.1111/CGE.13205

4. Bouras A, Lefol C, Ruano E et al (2023) PMS2 or PMS2CL? Characterization of variants detected in the 3′ of the PMS2 gene. Genes Chromosom Cancer. https://doi.org/10.1002/GCC.23193

5. Chong AS, Chong G, Foulkes WD, Saskin A (2020) Reclassification of a frequent african-origin variant from PMS2 to the pseudogene PMS2CL. Hum Mutat 41:749–752. https://doi.org/10.1002/HUMU.23978