ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Unexplained mismatch repair deficiency: Case closed.HGG advances · 2023Pooled it
- Pediatric Hereditary Polyposis Syndromes: Diagnosis, Surveillance, and Management Across Evolving Guidelines.Digestive diseases and sciences · 2026Review
- Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.Journal of cancer research and clinical oncology · 2026Article
- Lynch Syndrome: An Update of Underlying Molecular Mechanisms, Phenotypes and Methods to Classify Variants of Uncertain Significance.Biomedicines · 2026Review
- Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.World journal of gastroenterology · 2026Article
- Landscape of germline genetic alterations among non-western young male patients with cancer. Findings from The Jordanian exploratory cancer genetics study.Frontiers in oncology · 2026Article
- Large colorectal lesions: Expanding the boundaries of endoscopic management.World journal of gastrointestinal endoscopy · 2025Article
- Advances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.Cancers · 2025Review
- Article
- High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics.Molecular biology reports · 2025Article
- Germline testing of Iranian families suspected of Lynch syndrome: molecular characterization and current surveillance of families with pathogenic variants in MSH2 , MSH6 , and PMS2.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2025Article
- p53 in colorectal cancer: from a master player to a privileged therapy target.Journal of translational medicine · 2025Review
- Germline variants in patients from the Iranian hereditary colorectal cancer registry.Cancer cell international · 2025Article
- Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.NPJ precision oncology · 2025Article
- Prevalence and Clinical Characteristics Associated with KRAS Gene Mutations in Colorectal Cancer in Ecuadorian Patients: A Cross-Sectional Study.Cancer management and research · 2025Article
- Effect of genetic profiling on surgical decisions at hereditary colorectal cancer syndromes.Heliyon · 2024Review
- Revolutionizing Gastrointestinal Disorder Management: Cutting-Edge Advances and Future Prospects.Journal of clinical medicine · 2024Review
- Detecting colorectal cancer using genetic and epigenetic biomarkers: screening and diagnosis.Journal of medicine and life · 2024Review
- The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.Cancers · 2023Article
- Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria.Hereditary cancer in clinical practice · 2023Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Colorectal cancer (CRC) is the fourth most frequently diagnosed cancer and 30% of all cases of CRC are believed to have a familial component and up to one-third of these (10%) are hereditary. Pathogenic germline variants in multiple genes have been associated with predisposition to hereditary CRC or polyposis. Lynch syndrome (LS) is the most common hereditary CRC syndrome, caused by variants in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 and is inherited in a dominant manner. Heritable conditions associated with colonic polyposis include familial adenomatous polyposis (FAP) associated with APC pathogenic variants, MUTYH-associated polyposis (MAP) caused by biallelic MUTYH pathogenic variants, and polymerase proofreading-associated polyposis (PPAP) caused by POLE or POLD1 pathogenic variants. Given the overlapping phenotypes of the cancer syndromes along with the limited sensitivity of using clinical criteria alone, a multigene panel testing approach to diagnose these conditions using next-generation sequencing (NGS) is effective and efficient. This technical standard is not recommended for use in the clinic for patient evaluation. Please refer to National Comprehensive Cancer Network (NCCN) clinical practice guidelines to determine an appropriate testing strategy and guide medical screening and management. This 2021 edition of the American College of Medical Genetics and Genomics (ACMG) technical standard supersedes the 2013 edition on this topic.
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