Table 1.
Case-control and cohort studies on family history and EGFR mutation status included in the meta-analysis
| Study ID | Study /Year | Country | Study design | Sample size | Year at diagnosis | Female | Non-smokersa | NSCLC (%) | Lung ADC (%) | Relatives with cancer | Family history (%) | EGFR positive mutation definition | EGFR mutation (%) | EGFR detection method | Detection gene site | Comment |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Cheng et al. /2015 [25] | Taiwan, China | Case-control | 246 | 2012–2014 | 89% | 100% | 100% | 93% | 1st and 2nd degree | 34.6% | NR | 40% | PCR direct sequencing | NR | FHLC, FH_All, FH_Other available |
| 2 | Gaughan et al./ 2013 [26] | USA | Cohort | 230 | 2004–2011 | 67% | 100% | 100% | 87% | 1st and 2nd degree | 56.9% | All mutations | 42.6% | PCR direct sequencing | exon18–21 | FHLC, FH_All, FH_Other available |
| 3 | He et al./ 2013 [27] | China | Cohort | 538 | 2008–2012 | 44.2% | 43.9% | 100% | 82.0% | 1st degree | 21.7% | 19del, T790 M, L858R | 40.9% | ARMS | 2 types of deletion of exon 19, T790 M, L858R | FHLC, FH_All, FH_Other available |
| 4 | Hsu et al./ 2016 [28] | Taiwan, China | Cohort | 1713 | 2011–2014 | 54.2% | 81.6% | 100% | 100% | 1st degree | 7.6% | All mutations | 55.8% | MALDI-TOF MS (Mass ARRAY®) | exon 18–21 | Only FHLC available |
| 5 | Isla et al. / 2016 [29] | Spain | Cohort | 830 | 2007–2012 | 100% | 39.7% b | 86.2% b | 64.9% b | 1st and 2nd degree | 50.6% | All mutations | 33.9% | PCR sequencing | exon 18–21 | FHLC, FH_All, FH_Other available |
| 6 | Kawaguchi et al./ 2011 [30] | Japan | Cohort | 124 | 2008–2010 | 88.1% | 100% | 100% | 96.8% | 1st degree | 17.4% | 19del, L858R | 62.7% | PCR-INVADER | exon 18–21 | Only FHLC available |
| 7 | Kim JS et al./ 2017 [31] | Korea | Cohort | 829 | 2006–2014 | 35.5% | 33.1% | 100% | 64.8% | 1st degree | 9.0% | NR | 37.2% | PCR direct sequencing | exon 18–21 | Only FHLC available |
| 8 | Kim SY et al./ 2017 [32] | Korea | Cohort | 835 | 2003–2013 | 100% | 93.4% | 100% | 89.1% | 1st degree | 34.1% | 19del, L858R, G719X | 45.3% | direct sequencing or pyrosequencing | exon 18-21 | Only FH_All available |
| 9 | Okudela et al./ 2009 [33] | Japan | Cohort | 153 | 2001–2008 | 49.1% | 49.1% | 100% | 100% | NS | 37.3% | 19del, L858R | 21.6% | PCR direct sequencing | 28 exons | Only FH_All available |
| 10 | Wang et al./ 2015 [34] | China | Cohort | 297 | 2009–2013 | N/A | 80.1% | 100% | 57.9% | 1st and 2nd degree | 15.2% |
19del, L858R, L861Q, S768I, G719S/A/C |
45.8% | PCR sequencing | NR | Only FH_All available |
| 11 | Zhu et al./ 2014 [35] | China | Cohort | 131 | 2011–2012 | 43.5% | 56.5% | 100% | 100% | 1st and 2nd degree | 14.5% | Exon 19 del E746A750, L858R | 48.1% | ARMS/ Scorpion | Exon 19 del E746A750, L858R | Only FH_All available |
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
aExposure < 100 cigarettes in one’s life time
bin total 1762 lung cancer cases, of which 830 cases had EGFR mutation status available