278
Views
2
CrossRef citations to date
0
Altmetric
CASE REPORT

A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review

, , , , , , & ORCID Icon show all
Pages 17-22 | Received 29 Sep 2022, Accepted 30 Dec 2022, Published online: 18 Jan 2023

References

  • Sung H, Ferlay J, Siegel RL, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71(3):209–249. doi:10.3322/caac.21660
  • Midha A, Dearden S, McCormack R. EGFR mutation incidence in non-small-cell lung cancer of adenocarcinoma histology: a systematic review and global map by ethnicity (mutMapII). Am J Cancer Res. 2015;5(9):2892.
  • Lissowska J, Foretova L, Dąbek J, et al. Family history and lung cancer risk: international multicentre case–control study in Eastern and Central Europe and meta-analyses. Cancer Causes Control. 2010;21(7):1091–1104.
  • Li C, Wang Y, Su K, et al. Presentation of EGFR mutations in 162 family probands with multiple primary lung cancer. Transl Lung Cancer Res. 2021;10(4):1734–1746. doi:10.21037/tlcr-20-1001
  • Centeno I, Blay P, Santamaría I, et al. Germ-line mutations in epidermal growth factor receptor (EGFR) are rare but may contribute to oncogenesis: a novel germ-line mutation in EGFR detected in a patient with lung adenocarcinoma. BMC Cancer. 2011;11(1):1–8. doi:10.1186/1471-2407-11-172
  • Ma W, Gong J, Shan J, et al.Safety and efficacy of osimertinib in the treatment of a patient with metastatic lung cancer and concurrent somatic EGFR L858R and germline EGFR T790M mutations. JCO Precis Oncol. 2018;(2):1–7. doi:10.1200/PO.18.00076
  • Yokoyama T, Kondo M, Goto Y, et al. EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification. Cancer Sci. 2006;97(8):753–759. doi:10.1111/j.1349-7006.2006.00233.x
  • Costa DB. Kinase inhibitor-responsive genotypes in EGFR mutated lung adenocarcinomas: moving past common point mutations or indels into uncommon kinase domain duplications and rearrangements. Transl Lung Cancer Res. 2016;5(3):331. doi:10.21037/tlcr.2016.06.04
  • Robichaux JP, Le X, Vijayan RSK, et al. Structure-based classification predicts drug response in EGFR-mutant NSCLC. Nature. 2021;597(7878):732–737. doi:10.1038/s41586-021-03898-1
  • Ruan Z, Kannan N. Mechanistic insights into R776H mediated activation of epidermal growth factor receptor kinase. Biochemistry. 2015;54(27):4216–4225. doi:10.1021/acs.biochem.5b00444
  • van Noesel J, van der Ven WH, van Os TA, et al. Activating germline R776H mutation in the epidermal growth factor receptor associated with lung cancer with squamous differentiation. J Clin Oncol. 2013;31(10):e161–e164. doi:10.1200/JCO.2012.42.1586
  • Guo T, Zhu L, Li W, et al. Two cases of non-small cell lung cancer patients with somatic or germline EGFR R776H mutation. Lung Cancer. 2021;161:94–97. doi:10.1016/j.lungcan.2021.05.036
  • An G, He L, Wang X, et al. Molecular Characteristics of EGFR Exon 20 Uncommon R776H Mutation and Response to Osimertinib in NSCLC Patients. Wolters Kluwer Health; 2021.
  • Su K, Gao S, Ying J, Zou S, He J. Sequencing a super multiple synchronous lung cancer reveals a novel variant in driver gene ARID1B. J Thorac Cardiovasc Surg. 2018;155(6):e185–e191. doi:10.1016/j.jtcvs.2018.01.010
  • Sovich JL, Dan T, Gemmell A, Clark C, Gagan J, Dowell JE. Lung adenocarcinoma associated with germline EGFR R776H variant: a case report and review of the literature. JCO Precis Oncol. 2022;6:e2100559. doi:10.1200/PO.21.00559