基于家系外显子测序的乳头状甲状腺癌致病基因的挖掘

Pedigree-based exome sequencing for dentification of causative gene to papillary thyroid carcinoma

目的鉴定家族性乳头状甲状腺癌的遗传基因及其位点。方法对1例家族性乳头状甲状腺癌家父亲、母亲以及儿子进行外显子组高通量测序。结果 DUOXA2可能是一个甲状腺癌的致病基因。结论外显子测序有助于快速发现癌症的致病基因,对于族性乳头状甲状腺癌致病基因的鉴定有着重大的潜在价值。

Objective To identify the genes and loci of familial papillary thyroid carcinoma. Methods A highthroughput sequencing of exomes of the fathers, mothers, and sons of a family with thyroid papillary carcinoma was performed. Results： DUOXA2 may be a causative gene for familial thyroid cancer. Conclusion Exome sequencing can quickly identify the causative gene in cancer patients, especially in familial thyroid papillary carcinoma.