Classification and genetic counselling for a novel splicing mutation of the MLH1 intron associated with Lynch syndrome in colorectal cancer

BACKGROUND: Lynch-syndrome-associated cancer is caused by germline pathogenic mutations in mismatch repair genes. The major challenge to Lynch-syndrome screening is the interpretation of variants found by diagnostic testing. This study aimed to classify the MLH1 c.1989 + 5G>A mutation, which was...

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Detalles Bibliográficos
Autores principales: Wang, Ling-Ling, Zou, Shuang-Mei, Dong, Lin, Yang, Ming, Qi, Dan, Lu, Zhao, Chen, Jia-Nan, Mei, Shi-Wen, Zhao, Zhi-Xun, Guan, Xu, Jiang, Zheng, Liu, Qian, Liu, Zheng, Wang, Xi-Shan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8677562/
https://www.ncbi.nlm.nih.gov/pubmed/34925852
http://dx.doi.org/10.1093/gastro/goab030

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