2024 Asia Conference on Lung Cancer (ACLC) - Poster & ePosters-PP01.55

PP01.55 - Mansi Sharma

Pdf Summary

The study "Demystifying Germline Predisposition in Indian NSCLC" led by Mansi Sharma and colleagues explores genetic predispositions in non-small cell lung cancer (NSCLC) among young, non-smoking Indian patients. Conducted at the Rajiv Gandhi Cancer Institute and FORTIS Memorial Research Institute, the research aims to understand the role of inherited genetic alterations in NSCLC, given that roughly 2% of lung cancer cases are linked to germline mutations.<br /><br />The study targeted NSCLC patients under 40 who had never smoked, conducting germline exome sequencing after obtaining informed consent and providing pre-test counseling. Of 64 eligible patients, 48 participated, revealing germline alterations in 28 (approximately 58%). Among these, 8 exhibited pathogenic or likely pathogenic variants, while 20 showed variants of uncertain clinical significance (VUS).<br /><br />Key mutations identified included RASSF1A, BRCA1/2, VSIG10L, TP53, NF1, RB1, and a germline alteration in EGFR T790M. Families of patients with pathogenic variants were offered cascade testing; however, uptake was low due to limited awareness and social stigma surrounding inherited cancer risks.<br /><br />Posttest counseling and follow-ups were provided, especially for those with VUS, highlighting a need for regular re-evaluation. The study underscores the importance of germline testing for identifying hereditary cancer syndromes in NSCLC, advocating for increased awareness and larger-scale studies to better understand and address genetic predispositions and their implications for patient care.<br /><br />The findings indicate a plausible genetic susceptibility in 4.7% of lung cancer patients, emphasizing differences in the Indian genetic landscape compared to western populations. Authors recommend awareness programs to enhance understanding of inherited predisposition in NSCLC. Correspondence regarding the study can be directed to Ullas Batra at ullasbatra@gmail.com.

Keywords

NSCLC

germline predisposition

genetic alterations

Indian patients

Mansi Sharma

pathogenic variants

germline exome sequencing

RASSF1A

BRCA1/2

EGFR T790M