Pathogenic Variants in Genes Associated With Lung Adenocarcinoma

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. 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.

Eligibility

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

Conditions3

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