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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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Dades bibliogràfiques
Publicat a:Hered Cancer Clin Pract
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Accés en línia: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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