Higher frequency but random distribution of EGFR mutation subtypes in familial lung cancer patients

Kuo Hsuan Hsu, Jeng Sen Tseng, Chih Liang Wang, Tsung Ying Yang, Chien Hua Tseng, Hsuan Yu Chen, Kun Chieh Chen, Chi Ren Tsai, Cheng Ta Yang, Sung Liang Yu, Kang Yi Su, Chong Jen Yu, Chao Chi Ho, Te Chun Hsia, Ming Fang Wu, Kuo Liang Chiu, Chien Ming Liu, Pan Chyr Yang, Jeremy J.W. Chen, Gee Chen Chang

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


Despite the advancement of epidermal growth factor receptor (EGFR) inhibitors in lung cancer therapy, it remains unclear whether EGFR mutation status in familial lung cancers is different from that of sporadic cases. In this multicenter retrospective study, we compared both the EGFR mutation frequency and patterns between familial and sporadic cases. The results explored that family history of lung cancer is an independent predictor for higher EGFR mutation rate in 1713 lung adenocarcinoma patients (Odd ratio 1.68, 95% CI 1.06-2.67, P = 0.028). However, the distribution of EGFR mutation subtypes was similar to that of sporadic cases. Part of our study involved 40 lung cancer families with at least 2 tumor tissues available within each single family (n = 88) and there was no familial aggregation pattern in EGFR mutation subtypes. There were two families harboring the YAP1 R331W germline risk allele and EGFR mutation statuses among YAP1 family members also varied. These phenomena may hint at the direction of future research into lung carcinogenesis and EGFR mutagenesis.

Original languageEnglish
Pages (from-to)53299-53308
Number of pages10
Issue number33
Publication statusPublished - Aug 1 2016


  • Epidermal growth factor receptor (EGFR)
  • Familial lung cancer
  • Non-small cell lung cancer
  • YAP1

ASJC Scopus subject areas

  • Oncology


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