Evidence map›Paper›PMID 34873870›Full record

ArticleThe journal of pathology. Clinical research2022

Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.

Valentyna Kryklyva, Lodewijk Aa Brosens, Monica Aj Marijnissen-van Zanten, Marjolijn Jl Ligtenberg, Iris D Nagtegaal

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Article in The journal of pathology. Clinical research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Valentyna KryklyvaDepartment of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0002-1020-6606
Lodewijk Aa BrosensDepartment of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-1341-8994
Monica Aj Marijnissen-van ZantenDepartment of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Marjolijn Jl LigtenbergDepartment of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Iris D NagtegaalDepartment of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mismatch repair deficiency (dMMR) is a hallmark of Lynch syndrome (LS), but its prevalence in early-onset (diagnosed under the age of 50 years) duodenal, ampullary, and pancreatic carcinomas (DC, AC, and PC, respectively) is largely unknown. We explored the prevalence of dMMR and the underlying molecular mechanisms in a retrospectively collected cohort of 90 early-onset carcinomas of duodenal, ampullary, and pancreatic origin. dMMR was most prevalent in early-onset DCs (47.8%); more than half of those were associated with hereditary cancer syndromes (LS or constitutional mismatch repair deficiency syndrome). All dMMR AC and PC were due to LS. Concordance of dMMR with underlying hereditary condition warrants ubiquitous dMMR testing in all early-onset DC, AC, and PC.

Indexed as

CarcinomaColorectal Neoplasms, Hereditary NonpolyposisBrain NeoplasmsColorectal NeoplasmsDNA Mismatch RepairHumansMiddle AgedNeoplastic Syndromes, HereditaryRetrospective Studiesconstitutional mismatch repair deficiency syndromeearly-onset ampullary carcinomaearly-onset duodenal carcinomaearly-onset pancreatic carcinomagermline variantsLynch syndromemicrosatellite instabilitymismatch repair deficiency

Identifiers

PMID34873870
PMCPMC8822371

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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.