Pathogenic Variants in Genes Associated With Lung Adenocarcinoma

NCT06181812 | Recruiting

• 1 other identifier: (022/056/ICI)(CEI/057/22)
• Study Type: observational
• Target: 332
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this observational study is to describe the prevalence of germ line-pathogenic variants in Mexican patients with lung adenocarcinoma. The main questions it aims to answer are:

1. 1.What is the prevalence of pathogenic variants in genes associated with lung adenocarcinoma in Mexican patients younger than fifty?
2. 2.Which clinical-pathological characteristics are associated with germ-line pathogenic variants in patients with lung adenocarcinoma?
3. 3.How actionable somatic mutations are associated with germ line-pathogenic variants of patients with lung adenocarcinoma?

Conditions

Lung Adenocarcinoma

Keywords

Lung adenocarcinoma; Hereditary Cancer; Germline Pathogenic/Likely pathogenic variants; Somatic driver alterations

Outcome Measures

Primary Outcomes (1)

• PV in patients with lung carcinoma

  To determine the prevalence of pathogenic variants (PV) in patients with lung adenocarcinoma through amplicon next-generation sequencing (NGS).

  One peripherial blood sample (day 1) at baseline of study.

Secondary Outcomes (2)

• OS

  From date of confirmed diagnosis until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 24 months

• PFS

  From date of first line of treatment initiation (guided therapy) until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 12 months

Eligibility Criteria

• Age: 16 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with lung adenocarcinoma treated in the Thoracic Oncology Unit of the National Institute of Cancer.

You may qualify if:

• Both sexes
• ≥ 16 years old, according the institutional protocols for new patients admittances.
• histologically confirmed lung adenocarcinoma (LUAD)
• Signed written informed consent form
• A life expectancy greater than 8 weeks.
• Histologically confirmed LUAD and one of the following conditions: i) LCFH, defined as having one first-degree relative (FDR) or two or more second-degree relatives with LC, irrespective of the age at diagnosis. ii) Age at diagnosis ≤50 years, or ≤60 with a pack-years index. iii) Presence of ≥1 AGAs (EGFR, ALK, ROS1, KRAS, BRAF, MET exon 14 skipping, or RET).

You may not qualify if:

• A sample of peripheral blood that is not accessible.
• Insufficient clinical pathological information in the electronic clinical record.
• Elimination Criteria:
• Withdrawal
• Insufficient DNA quality and quantity for genomic sequencing analyses.
• Lost of follow up

Sponsors & Collaborators

• Oscar Gerardo Arrieta Rodríguez: lead

Study Sites (1)

Thoracic Oncology Unit and Personalized Medicine Laboratory, Instituto Nacional de Cancerología

Mexico City, Mexico City, 14080, Mexico

RECRUITING

Related Publications (9)

• Siegel RL, Miller KD, Fuchs HE, Jemal A. Cancer statistics, 2022. CA Cancer J Clin. 2022 Jan;72(1):7-33. doi: 10.3322/caac.21708. Epub 2022 Jan 12.

  PMID: 35020204 BACKGROUND

• Kumar R, Castillero F, Bhandari S, Malapati S, Kloecker G. The Hispanic Paradox in Non-Small Cell Lung Cancer. Hematol Oncol Stem Cell Ther. 2022 Jun 1;15(2):21-29. doi: 10.1016/j.hemonc.2021.02.004.

  PMID: 33775613 BACKGROUND

• Mukherjee S, Bandlamudi C, Hellmann MD, Kemel Y, Drill E, Rizvi H, Tkachuk K, Khurram A, Walsh MF, Zauderer MG, Mandelker D, Topka S, Zehir A, Srinivasan P, Esai Selvan M, Carlo MI, Cadoo KA, Latham A, Hamilton JG, Liu YL, Lipkin SM, Belhadj S, Bond GL, Gumus ZH, Klein RJ, Ladanyi M, Solit DB, Robson ME, Jones DR, Kris MG, Vijai J, Stadler ZK, Amos CI, Taylor BS, Berger MF, Rudin CM, Offit K. Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer. Cancer Epidemiol Biomarkers Prev. 2022 Jul 1;31(7):1450-1459. doi: 10.1158/1055-9965.EPI-21-1287.

  PMID: 35477182 BACKGROUND

• Sorscher S, LoPiccolo J, Heald B, Chen E, Bristow SL, Michalski ST, Nielsen SM, Lacoste A, Keyder E, Lee H, Nussbaum RL, Martins R, Esplin ED. Rate of Pathogenic Germline Variants in Patients With Lung Cancer. JCO Precis Oncol. 2023 Sep;7:e2300190. doi: 10.1200/PO.23.00190.

  PMID: 37992258 BACKGROUND

• Peng W, Li B, Li J, Chang L, Bai J, Yi Y, Chen R, Zhang Y, Chen C, Pu X, Jiang M, Li J, Zhong R, Xu F, Chen B, Xu L, Wang N, Huan J, Dai P, Guan Y, Yang L, Xia X, Yi X, Wang J, Yu F, Wu L. Clinical and genomic features of Chinese lung cancer patients with germline mutations. Nat Commun. 2022 Mar 10;13(1):1268. doi: 10.1038/s41467-022-28840-5.

  BACKGROUND

• Carrot-Zhang J, Soca-Chafre G, Patterson N, Thorner AR, Nag A, Watson J, Genovese G, Rodriguez J, Gelbard MK, Corrales-Rodriguez L, Mitsuishi Y, Ha G, Campbell JD, Oxnard GR, Arrieta O, Cardona AF, Gusev A, Meyerson M. Genetic Ancestry Contributes to Somatic Mutations in Lung Cancers from Admixed Latin American Populations. Cancer Discov. 2021 Mar;11(3):591-598. doi: 10.1158/2159-8290.CD-20-1165. Epub 2020 Dec 2.

  PMID: 33268447 BACKGROUND

• Gerson R, Zatarain-Barron ZL, Blanco C, Arrieta O. Access to lung cancer therapy in the Mexican population: opportunities for reducing inequity within the health system. Salud Publica Mex. 2019 May-Jun;61(3):352-358. doi: 10.21149/10118.

  PMID: 31276352 BACKGROUND

• Wang Y, McKay JD, Rafnar T, Wang Z, Timofeeva MN, Broderick P, Zong X, Laplana M, Wei Y, Han Y, Lloyd A, Delahaye-Sourdeix M, Chubb D, Gaborieau V, Wheeler W, Chatterjee N, Thorleifsson G, Sulem P, Liu G, Kaaks R, Henrion M, Kinnersley B, Vallee M, LeCalvez-Kelm F, Stevens VL, Gapstur SM, Chen WV, Zaridze D, Szeszenia-Dabrowska N, Lissowska J, Rudnai P, Fabianova E, Mates D, Bencko V, Foretova L, Janout V, Krokan HE, Gabrielsen ME, Skorpen F, Vatten L, Njolstad I, Chen C, Goodman G, Benhamou S, Vooder T, Valk K, Nelis M, Metspalu A, Lener M, Lubinski J, Johansson M, Vineis P, Agudo A, Clavel-Chapelon F, Bueno-de-Mesquita HB, Trichopoulos D, Khaw KT, Johansson M, Weiderpass E, Tjonneland A, Riboli E, Lathrop M, Scelo G, Albanes D, Caporaso NE, Ye Y, Gu J, Wu X, Spitz MR, Dienemann H, Rosenberger A, Su L, Matakidou A, Eisen T, Stefansson K, Risch A, Chanock SJ, Christiani DC, Hung RJ, Brennan P, Landi MT, Houlston RS, Amos CI. Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat Genet. 2014 Jul;46(7):736-41. doi: 10.1038/ng.3002. Epub 2014 Jun 1.

  PMID: 24880342 BACKGROUND

• Esai Selvan M, Zauderer MG, Rudin CM, Jones S, Mukherjee S, Offit K, Onel K, Rennert G, Velculescu VE, Lipkin SM, Klein RJ, Gumus ZH. Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk. J Thorac Oncol. 2020 Dec;15(12):1871-1879. doi: 10.1016/j.jtho.2020.08.017. Epub 2020 Aug 28.

  PMID: 32866655 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

peripheral blood sample

MeSH Terms

Conditions

Adenocarcinoma of Lung

Condition Hierarchy (Ancestors)

Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Lung Neoplasms; Respiratory Tract Neoplasms; Thoracic Neoplasms; Neoplasms by Site

Study Officials

• Oscar G Arrieta Rodriguez, M.D., M.Sc.

  Instituto Nacional de Cancerologia de Mexico

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Oscar G Arrieta Rodriguez, M.D., M.Sc.

CONTACT

5556280400; ogar@unam.mx

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Coordinator of the Thoracic Oncology Unit and Laboratory of Personalized Medicine

Study Record Dates

• First Submitted: December 13, 2023
• First Posted: December 26, 2023
• Study Start: December 15, 2022
• Primary Completion (Estimated): December 15, 2026
• Study Completion (Estimated): December 15, 2027
• Last Updated: April 8, 2026

Record last verified: 2026-04

Locations

ME (1)