ArticleThe American journal of gastroenterology2016
Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.
Article in The American journal of gastroenterology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Genotype-phenotype correlations inOncology reviews · 2025Pooled it
- Genetic predisposition to polyposis syndromes.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- Immunoprevention of non-viral cancers: challenges and strategies for early intervention.Cancer cell international · 2025Review
- Specific brain MRI features of constitutional mismatch repair deficiency syndrome in children with high-grade gliomas.European radiology · 2024Article
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2021Article
- Intensive surveillance endoscopy for multiple gastrointestinal tumors in a patient with constitutional mismatch repair deficiency: case report.BMC gastroenterology · 2021Article
- Immune Checkpoint Inhibition as Primary Adjuvant Therapy for anCurrent oncology (Toronto, Ont.) · 2021Article
- Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.AJNR. American journal of neuroradiology · 2020Article
- A practical guide to biomarkers for the evaluation of colorectal cancer.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Review
- Role of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium.Endoscopy international open · 2018Article
- Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.CA: a cancer journal for clinicians · 2018Review
- Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.Familial cancer · 2017Article
- A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency.Familial cancer · 2017Article
- Leveraging premalignant biology for immune-based cancer prevention.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
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Authors and funding
33 authors at 15 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesHereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI, brain, and hematological cancers. This is the first study to characterize the GI phenotype in BMMRD using both retrospective and prospective surveillance data.
methodsThe International BMMRD Consortium was created to collect information on BMMRD families referred from around the world. All patients had germline biallelic MMR mutations or lack of MMR protein staining in normal and tumor tissue. GI screening data were obtained through medical records with annual updates.
resultsThirty-five individuals from seven countries were identified with BMMRD. GI data were available on 24 of 33 individuals (73%) of screening age, totaling 53 person-years. The youngest age of colonic adenomas was 7, and small bowel adenoma was 11. Eight patients had 19 colorectal adenocarcinomas (CRC; median age 16.7 years, range 8-25), and 11 of 18 (61%) CRC were distal to the splenic flexure. Eleven patients had 15 colorectal surgeries (median 14 years, range 9-25). Four patients had five small bowel adenocarcinomas (SBC; median 18 years, range 11-33). Two CRC and two SBC were detected during surveillance within 6-11 months and 9-16 months, respectively, of last consecutive endoscopy. No patient undergoing surveillance died of a GI malignancy. Familial clustering of GI cancer was observed.
conclusionsThe prevalence and penetrance of GI neoplasia in children with BMMRD is high, with rapid development of carcinoma. Colorectal and small bowel surveillance should commence at ages 3-5 and 8 years, respectively.
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