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Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS

SIMPLE SUMMARY: Lynch syndrome is a hereditary cancer condition caused by a pathogenic variant (mutation) within one of the mismatch repair (MMR) genes. Risks for cancer vary by which MMR gene is mutated and sex, although colorectal and uterine cancers are most common. A major challenge in genetic t...

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Detalles Bibliográficos
Autores principales: Vogelaar, Ingrid P., Greer, Stephanie, Wang, Fan, Shin, GiWon, Lau, Billy, Hu, Yajing, Haraldsdottir, Sigurdis, Alvarez, Rocio, Hazelett, Dennis, Nguyen, Peter, Aguirre, Francesca P., Guindi, Maha, Hendifar, Andrew, Balcom, Jessica, Leininger, Anna, Fairbank, Beth, Ji, Hanlee, Hitchins, Megan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9818763/
https://www.ncbi.nlm.nih.gov/pubmed/36612224
http://dx.doi.org/10.3390/cancers15010228