ArticleClinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association2022
Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study.
Article in Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses that pooled it.
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58 citing papers in PubMed, 3 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- Microsatellite instability and mismatch repair deficiency prevalence among Hispanic/Latino individuals with colorectal cancer: a systematic review and meta-analysis.International journal of colorectal disease · 2026Pooled it
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2023Guideline
- Pan-cancer prevalence of microsatellite instability and Lynch syndrome in India.Familial cancer · 2026Article
- Shaping the future of early-onset colorectal cancer prevention.Nature reviews. Cancer · 2026Review
- The Landscape of Genomic and Socioeconomic Variables in Patients with Colorectal Cancer Based on Genetic Ancestry.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- Colorectal Cancer Screening in Hereditary and Familial High-Risk Populations: Best Practices and Future Directions.International journal of cancer · 2026Review
- Development and feasibility testing of a conversational chatbot supporting genetic education and testing for hereditary cancer.Journal of community genetics · 2026Article
- Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients.Cancer medicine · 2026Article
- A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.International journal of clinical oncology · 2026Review
- A scalable new model of germline cancer genomic care delivery: Assessing psychological outcomes.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- [Next-Generation Sequencing-Based Detection of Gene Mutations and Its Association With Clinicopathological Features in Gastric Cancer].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026Article
- Article
- Paired Exome-Based Comprehensive Genomic Profiling and Germline Genetic Testing for Unselected Patients With Colorectal Cancer in a Multicenter Prospective Study.Gastro hep advances · 2026Article
- Advances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.Cancers · 2025Review
- The prognostic and predictive value of homologous recombination deficiency in gastrointestinal cancer.The oncologist · 2025Review
- Early-Onset Colorectal Cancer: From Genetic Discovery to Clinical Innovation.American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting · 2025Review
- Germline variants in patients from the Iranian hereditary colorectal cancer registry.Cancer cell international · 2025Article
- Incidental germline findings during comprehensive genomic profiling of pancreatic and colorectal cancer: single-centre, molecular tumour board experience.Mutagenesis · 2025Article
- Article
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22 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND &
aimsHereditary factors play a role in the development of colorectal cancer (CRC). Identification of germline predisposition can have implications on treatment and cancer prevention. This study aimed to determine the prevalence of pathogenic germline variants (PGVs) in CRC patients using a universal testing approach, association with clinical outcomes, and the uptake of family variant testing.
methodsWe performed a prospective multisite study of germline sequencing using a more than 80-gene next-generation sequencing platform among CRC patients (not selected for age or family history) receiving care at Mayo Clinic Cancer Centers between April 1, 2018, and March 31, 2020.
resultsOf 361 patients, the median age was 57 years (SD, 12.4 y), 43.5% were female, 82% were white, and 38.2% had stage IV disease. PGVs were found in 15.5% (n = 56) of patients, including 44 in moderate- and high-penetrance cancer susceptibility genes. Thirty-four (9.4%) patients had incremental clinically actionable findings that would not have been detected by practice guideline criteria or a CRC-specific gene panel. Only younger age at diagnosis was associated with the presence of PGVs (odds ratio, 1.99; 95% CI, 1.12-3.56). After a median follow-up period of 20.7 months, no differences in overall survival were seen between those with or without a PGV (P = .2). Eleven percent of patients had modifications in their treatment based on genetic findings. Family cascade testing was low (16%).
conclusionsUniversal multigene panel testing in CRC was associated with a modest, but significant, detection of heritable mutations over guideline-based testing. One in 10 patients had changes in their management based on test results. Uptake of cascade family testing was low, which is a concerning observation that warrants further study.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.