Study the genetic susceptibility of esophagus squamous cell carcinomas (ESCC) in high-risk area Henan Chinese

This study utilized a genetically-enriched cohort of patients with familial ESCC from the high-risk Henan region, located near the Tai-Hang Mountain region in Northern China, to identify high penetrance ESCC predisposition genes using a comprehensive unbiased whole-exome sequencing (WES) strategy. Subsequent validate the prevalence of rare damage variants by targeted gene sequencing in a large sample size.

Type: Other
Archiver: EGA European Genome-Phenome Archive

1 Dataset 1 Publication

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Dataset ID	Description	Technology	Samples
EGAD00001004556	In total, 186 FH+ ESCC cases were sequenced using whole-exome sequencing, then 1935 ESCC cases and 1186 geographically-matched healthy controls were sequenced using 7 Mb custom designed Roche SeqCap kit which targeted about 600 genes. The libraries were constructed and then sequenced in Illumina platform.	Illumina HiSeq 2500	3289

Publications	Citations
RAD50 Loss of Function Variants in the Zinc Hook Domain Associated with Higher Risk of Familial Esophageal Squamous Cell Carcinoma. Ko JMY, Lam SY, Ning L, Chai AWY, Lei LC, Choi SSA, Wong CWY, Lung ML. Cancers (Basel) 13: 2021 4715	0