AUTHOR=Liu Lili , Cui Jia , Liu Siye , Pan Evenki , Sun Limin 

TITLE=Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation

JOURNAL=Frontiers in Oncology

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1177942

DOI=10.3389/fonc.2023.1177942

ISSN=2234-943X

ABSTRACT=<p>Family history is an established risk factor for lung cancer. Previous studies have found that germline genetic alterations, such as those in <italic>EGFR</italic>, <italic>BRCA1</italic>, <italic>BRCA2</italic>, <italic>CHEK2</italic>, <italic>CDKN2A</italic>, <italic>HER2</italic>, <italic>MET</italic>, <italic>NBN</italic>, <italic>PARK2</italic>, <italic>RET</italic>, <italic>TERT</italic>, <italic>TP53</italic>, and <italic>YAP1</italic>, are associated with an increased risk of developing lung cancer. The study reports the first of a lung adenocarcinoma proband with germline <italic>ERCC2</italic> frameshift mutation c.1849dup (p. A617Gfs*32). Her family cancer history review demonstrated that her two healthy sisters, a brother with lung cancer, and three healthy cousins were positive for <italic>ERCC2</italic> frameshift mutation, which might contribute to increased cancer risk. Our study highlights the necessity of performing comprehensive genomic profiling in discovering rare genetic alterations, early cancer screening, and monitoring for patients with family cancer history.</p>