A rare large duplication of MLH1 identified in Lynch syndrome

BACKGROUND: The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR...

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Detalhes bibliográficos
Publicado no:Hered Cancer Clin Pract
Main Authors: Kumar, Abhishek, Paramasivam, Nagarajan, Bandapalli, Obul Reddy, Schlesner, Matthias, Chen, Tianhui, Sijmons, Rolf, Dymerska, Dagmara, Golebiewska, Katarzyna, Kuswik, Magdalena, Lubinski, Jan, Hemminki, Kari, Försti, Asta
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7814444/
https://ncbi.nlm.nih.gov/pubmed/33468175
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13053-021-00167-0
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