ABSTRACT
BACKGROUND AND AIMS: To determine prevalence and clinical utility of pathogenic germline variants (PGV) in gastric and esophageal cancer patients using universal genetic testing approach. METHODS: We undertook a prospective study of germline sequencing using an > 80 gene next-generation sequencing platform among patients with gastric and esophageal cancers receiving care at Mayo Clinic Cancer Center between April 1, 2018, and March 31, 2020. Patients were not selected based on cancer stage, family history of cancer, ethnicity, or age. Family cascade testing was offered at no cost. RESULTS: A total of 96 patients were evaluated. Median age was 66 years, 80.2% were male, 89.6% were white. Nearly 39% of the cohort had esophageal cancer, 35.4% gastric cancer and 26% gastroesophageal junction cancers. Approximately half (52%) of the patients had metastatic disease. Pathogenic germline variants (PGV) were detected in 15.6% (n = 15) patients. The prevalence of PGV was 10.8% in esophageal cancer, 17.6% in gastric cancer and 20% in gastroesophageal cancer. Eighty percent of patients with a positive result would not have been detected by screening with standard guidelines for genetic testing. Most PGV detected included genes with high and moderate penetrance related to DNA damage response including BRCA1, BRCA2, PALB2 and ATM. CONCLUSIONS: Universal multi-gene panel testing in gastric and esophageal cancers was associated with detection of heritable mutations in 15% of patients. The majority of PGV would not be detected with current screening guidelines and are related to DNA damage response.
Subject(s)
Esophageal Neoplasms , Stomach Neoplasms , Humans , Male , Aged , Female , Prospective Studies , Esophageal Neoplasms/diagnosis , Esophageal Neoplasms/epidemiology , Esophageal Neoplasms/genetics , Stomach Neoplasms/diagnosis , Stomach Neoplasms/epidemiology , Stomach Neoplasms/genetics , Germ-Line Mutation , Genetic Testing , Germ Cells , Genetic Predisposition to DiseaseABSTRACT
BACKGROUND: Breast cancer is the leading cause of cancer death in Hispanic/Latina women nationwide. Limited cancer research has been conducted in this population. El Paso, Texas is a large border city with a population of around 900,000, of which 85% are Latinos and would provide a suitable setting for this study. The aim of this study is to evaluate ethnic differences and cancer characteristics in Hispanic/latina women with breast cancer. METHODS: After IRB approval, we retrospectively analyzed the variables of patients with breast cancer treated consecutively at a large tertiary medical center in El Paso, TX between 2005-2015. Descriptive statistics, bivariate, and multivariable analyses were conducted. RESULTS: 1,252 patients were identified. Mean age at diagnosis was 57 years. 1074 were Hispanics/Latinas (86%). When comparing Hispanics versus non-Hispanics, 31% of Hispanics compared to 24% Non-Hispanics were diagnosed at age <50 (P = 0.043). More Hispanics are uninsured (34%) compared to Non-Hispanics (25%) (p = 0.008). Hispanics presenting with advanced stages were more likely to be uninsured (P = 0.02). CONCLUSIONS: This analysis confirms that Hispanics/Latinas are diagnosed with breast cancer at a younger age and are more commonly uninsured than Non-Hispanics. We did not observe significant differences in the prevalence of ER+, triple negative or Her2 -neu positive disease or stages at presentation between the 2 groups in this cohort, however the non-Hispanic group was constituted only 14% of the studied population. A larger multi-institutional comparative study is being conducted to confirm these findings.
