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Germline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey
Journal article   Open access   Peer reviewed

Germline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey

Udhayvir S Grewal, Rishi R Patel, Bradley T Loeffler, Sydney Rathjens, Kawther Abdilleh, Fatima Zelada-Arenas, Nicholas J Hornstein, Timothy J Brown, Seth J Concors, Naomi H Fei, …
Cancer, Vol.132(10), p.e70446
05/15/2026
DOI: 10.1002/cncr.70446
PMCID: PMC13166122
PMID: 42118569
url
https://doi.org/10.1002/cncr.70446View
Published (Version of record) Open Access

Abstract

Approximately 10%-15% of patients with pancreatic ductal adenocarcinoma (PDAC) harbor pathogenic germline genetic alterations with direct therapeutic and hereditary cancer implications, leading to guideline recommendations for universal germline genetic testing regardless of family history. The authors conducted a cross-sectional electronic survey in collaboration with the Pancreatic Cancer Action Network (PanCAN). Surveys were distributed October-December 2024 to registry participants. Primary outcomes included being offered and completion of germline genetic testing. Secondary outcomes included genetic counseling, mutation results, and cascade testing among first-degree relatives (FDR). Multivariable logistic regression was used to identify factors associated with testing offer and completion. Among 1046 respondents, 66.2% were offered germline genetic testing and 69.2% completed testing. Black race, lack of insurance, unknown stage at diagnosis, and treatment at community practices were associated with lower odds of being offered testing. Completion of testing was lower among Black and Hispanic participants, uninsured individuals, and those treated in community settings, whereas patients with stage IV disease had the highest odds of completion. Among tested participants, 23.2% had a pathogenic germline variant, most commonly BRCA2, ATM, and BRCA1. Only 61.7% of mutation-positive respondents reported cascade testing in an FDR. Receipt of genetic counseling was associated with higher rates of cascade testing (p < .01). Universal germline genetic testing in PDAC remains incompletely implemented, with persistent inequities. Lack of discussion or offer of testing represents a key missed opportunity, underscoring the need for targeted interventions and expanded access.
Adult Aged BRCA2 Protein - genetics Carcinoma, Pancreatic Ductal - diagnosis Carcinoma, Pancreatic Ductal - genetics Carcinoma, Pancreatic Ductal - pathology Cross-Sectional Studies Female Genetic Counseling - statistics & numerical data Genetic Predisposition to Disease Genetic Testing - methods Genetic Testing - statistics & numerical data Germ-Line Mutation Humans Male Middle Aged Pancreatic Neoplasms - diagnosis Pancreatic Neoplasms - genetics Pancreatic Neoplasms - pathology Surveys and Questionnaires UIOWA OA Agreement

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