title: Sequencing study on familial lung squamous cancer.
abstract: Lung cancer is the leading cause of cancer-related mortality worldwide. The majority of lung cancers are sporadic, and familial cases are extremely rare. Previous studies have mainly focused on sporadic lung cancer and identified a large quantity of driver genes. However, familial lung cancers are rarer and studied less. The present study recruited a Chinese family in which multiple members had developed lung squamous carcinoma. To find the causative mutations, whole exome sequencing was conducted using a peripheral blood sample of one lung squamous carcinoma patient, and certain variants were validated in more samples. Whole exome sequencing analysis obtained ~2.0 Gb of data (an average of 60x depth for each targeted base), and further validation experiments identified two functional variants in two cancer-related genes (c.1218delA:p.E406fs in PDE4DIP and C1342A:p.L448I in CLTCL1). This study therefore provides useful sources for the further study of hereditary lung cancer.
authors.affiliation: Department of Thoracic Surgery, Second Affiliated Hospital, Medical School, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P.R. China.
authors.forename: Shaomin
authors.initials: S
authors.lastname: Li
authors.affiliation: Department of Emergency, Second Affiliated Hospital, Medical School, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P.R. China.
authors.forename: Lina
authors.initials: L
authors.lastname: Wang
authors.affiliation: Department of Thoracic Surgery, Second Affiliated Hospital, Medical School, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P.R. China.
authors.forename: Zhenchuan
authors.initials: Z
authors.lastname: Ma
authors.affiliation: Department of Thoracic Surgery, Second Affiliated Hospital, Medical School, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P.R. China.
authors.forename: Yuefeng
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Zhangjiang Center for Translational Medicine, Shanghai 201203, P.R. China.
authors.forename: Jiangman
authors.initials: J
authors.lastname: Zhao
authors.affiliation: Zhangjiang Center for Translational Medicine, Shanghai 201203, P.R. China.
authors.forename: B O
authors.initials: BO
authors.lastname: Peng
authors.affiliation: Department of Thoracic Surgery, Second Affiliated Hospital, Medical School, Xi'an Jiaotong University, Xi'an, Shaanxi 710004, P.R. China.
authors.forename: Zhe
authors.initials: Z
authors.lastname: Qiao
keywords: familial lung squamous cancer; mutation; whole exome sequencing