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Table 1 Case-control and cohort studies on family history and EGFR mutation status included in the meta-analysis

From: Potential genetic modifiers for somatic EGFR mutation in lung cancer: a meta-analysis and literature review

Study IDStudy /YearCountryStudy designSample sizeYear at diagnosisFemaleNon-smokersaNSCLC (%)Lung ADC (%)Relatives with cancerFamily history (%)EGFR positive mutation definitionEGFR mutation (%)EGFR detection methodDetection gene siteComment
1Cheng et al. /2015 [25]Taiwan, ChinaCase-control2462012–201489%100%100%93%1st and 2nd degree34.6%NR40%PCR direct sequencingNRFHLC, FH_All, FH_Other available
2Gaughan et al./ 2013 [26]USACohort2302004–201167%100%100%87%1st and 2nd degree56.9%All mutations42.6%PCR direct sequencingexon18–21FHLC, FH_All, FH_Other available
3He et al./ 2013 [27]ChinaCohort5382008–201244.2%43.9%100%82.0%1st degree21.7%19del, T790 M, L858R40.9%ARMS2 types of deletion of exon 19, T790 M, L858RFHLC, FH_All, FH_Other available
4Hsu et al./ 2016 [28]Taiwan, ChinaCohort17132011–201454.2%81.6%100%100%1st degree7.6%All mutations55.8%MALDI-TOF MS (Mass ARRAY®)exon 18–21Only FHLC available
5Isla et al. / 2016 [29]SpainCohort8302007–2012100%39.7% b86.2% b64.9% b1st and 2nd degree50.6%All mutations33.9%PCR sequencingexon 18–21FHLC, FH_All, FH_Other available
6Kawaguchi et al./ 2011 [30]JapanCohort1242008–201088.1%100%100%96.8%1st degree17.4%19del, L858R62.7%PCR-INVADERexon 18–21Only FHLC available
7Kim JS et al./ 2017 [31]KoreaCohort8292006–201435.5%33.1%100%64.8%1st degree9.0%NR37.2%PCR direct sequencingexon 18–21Only FHLC available
8Kim SY et al./ 2017 [32]KoreaCohort8352003–2013100%93.4%100%89.1%1st degree34.1%19del, L858R, G719X45.3%direct sequencing or pyrosequencingexon 18-21Only FH_All available
9Okudela et al./ 2009 [33]JapanCohort1532001–200849.1%49.1%100%100%NS37.3%19del, L858R21.6%PCR direct sequencing28 exonsOnly FH_All available
10Wang et al./ 2015 [34]ChinaCohort2972009–2013N/A80.1%100%57.9%1st and 2nd degree15.2%19del, L858R, L861Q,
45.8%PCR sequencingNROnly FH_All available
11Zhu et al./ 2014 [35]ChinaCohort1312011–201243.5%56.5%100%100%1st and 2nd degree14.5%Exon 19 del E746A750, L858R48.1%ARMS/ ScorpionExon 19 del E746A750, L858ROnly FH_All available
  1. Abbreviations: ADC adenocarcinoma, FHLC family history of lung cancer, FH_All family history of all cancers, FH_Other family history of other cancer (except lung cancer), NSCLC non-small cell lung cancer, PCR polymerase chain reaction, USA United States of America
  2. aExposure < 100 cigarettes in one’s life time
  3. bin total 1762 lung cancer cases, of which 830 cases had EGFR mutation status available