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NCT Number: NCT06181812

Pathogenic Variants in Genes Associated With Lung Adenocarcinoma

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

Participants will be asked to sign an informed consent; after that, they will be instructed to donate 10 ml of peripheral blood by venipuncture in the morning and before the patient has taken morning medication and the first meal, following a period of 8-12 hr fasting.

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Key information

Conditions

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

Age range

16 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Mexico City, 14080, Mexico

Location status: Recruiting

Location contact

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

CONTACT

[email protected]

5556280400 ext. 71101

About this study

This is an observational, descriptive, and longitudinal study.

The sample size was calculated with a proportion difference formula for a known population, considering the Local Institutional Personalized Medicine Laboratory tests 100 blood samples per year from patients with non-small cell lung cancer (NSCLC). It was considered a 95% confidence level and an 80% power. In addition, a 10% loss in follow-up was estimated.

After reviewing the inclusion and exclusion criteria, signing the informed consent, and peripheral blood sampling. Total DNA (tDNA) will be extracted using the DNAeasy Blood & Tissue (Qiagen) kit.

Likewise, for the determination of pathogenic variants, the Sophia HCS Community panels (Sophia genetics) will be used to carry out Next-generation (NGS) sequencing in a NextSeq 550 (Illumina) platform.

To determine the clinical significance of genomic variants, the data analysis will be performed on the SOPHiA Alamut™ Visual Plus which is a comprehensive, full genome browser for efficient and user-friendly variant interpretation.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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).

Exclusion criteria

  • 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

Treatment and study plan

Primary outcomes

  1. PV in patients with lung carcinoma

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

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

Secondary outcomes

  1. OS

    Time frame: 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

    To evaluate the prognostic impact of the pathogenic variants (PV) in the overall survival (OS) of patients with lung carcinoma.

  2. PFS

    Time frame: 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

    To evaluate the prognostic impact of the pathogenic variants (PV) in the progression free survival (PFS) of patients with lung carcinoma.

Study contacts

Contact information is provided by the study sponsor or research team.

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

CONTACT

[email protected]

5556280400 ext. 71101

Sponsors and collaborators

Lead sponsor

Oscar Gerardo Arrieta Rodríguez

Other

Registry information

Official study title

Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma

Important dates

Study start
2022
Primary completion
2026
Study completion
2027
First posted
Dec 26, 2023
Registry last updated
Apr 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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