Impact of routine mismatch repair screening on genetic counseling and surgical management in colorectal cancer patients

Kelsey E Koch; Paolo Goffredo; Jennifer E Hrabe; Irena Gribovskaja-Rupp; Anthony N Snow; Andrew M Bellizzi; Muneera R Kapadia

doi:10.1016/j.amjsurg.2020.12.017

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Impact of routine mismatch repair screening on genetic counseling and surgical management in colorectal cancer patients

Journal article

Peer reviewed

Impact of routine mismatch repair screening on genetic counseling and surgical management in colorectal cancer patients

Kelsey E Koch, Paolo Goffredo, Jennifer E Hrabe, Irena Gribovskaja-Rupp, Anthony N Snow, Andrew M Bellizzi and Muneera R Kapadia

The American journal of surgery, Vol.222(2), pp.408-412

08/2021

DOI: 10.1016/j.amjsurg.2020.12.017

PMID: 33317812

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Abstract

Mismatch repair (MMR) deficiency in colorectal cancer (CRC) should prompt consideration of genetic counseling (GC) as a Lynch syndrome (LS) diagnosis may have several implications for the patient and family. The study aims were to examine how routine MMR testing influences the rate of GC and surgical resection extent. A single-institution retrospective review was performed on CRC specimens (including colonoscopic biopsies) routinely screened for MMR deficiency from 2012 to 2018. MLH1-deficient cancers with mutated BRAF or MLH1-promoter hypermethylation were excluded. MMR deficiency was identified in 295 of 1139 CRC specimens. After exclusions, 57 patients remained. Forty-two patients (74%) were identified preoperatively, and 35 (83%) were referred to GC: 16 were seen preoperatively, 9 postoperatively. Eight patients were diagnosed with Lynch syndrome (LS) preoperatively: 2 had no resection, 2 underwent segmental resection and 4 underwent extended resection. Most MMR–deficient patients were identified and referred to GC preoperatively, though not all were seen. Of the preoperatively diagnosed LS patients, half underwent extended resection. Barriers to GC and decision-making around resection extent bears further study. •Colorectal cancer specimens are routinely tested for mismatch repair deficiency.•Most MMR deficiencies were identified on colonoscopic biopsy preoperatively.•Though most patients were recommended to see genetic counseling (GC), many did not.•Patients diagnosed with Lynch syndrome were likely to undergo an extended resection.

Genetic counseling

Lynch syndrome

Mismatch repair deficiency

Surgical management

Details

Title: Subtitle: Impact of routine mismatch repair screening on genetic counseling and surgical management in colorectal cancer patients
Creators: Kelsey E Koch - University of Iowa Hospitals and Clinics
Paolo Goffredo - University of Minnesota
Jennifer E Hrabe - University of Iowa Hospitals and Clinics
Irena Gribovskaja-Rupp - University of Iowa Hospitals and Clinics
Anthony N Snow - University of Iowa Hospitals and Clinics
Andrew M Bellizzi - University of Iowa Hospitals and Clinics
Muneera R Kapadia - University of North Carolina at Chapel Hill
Resource Type: Journal article
Publication Details: The American journal of surgery, Vol.222(2), pp.408-412
DOI: 10.1016/j.amjsurg.2020.12.017
PMID: 33317812
NLM abbreviation: Am J Surg
ISSN: 0002-9610
eISSN: 1879-1883
Publisher: Elsevier Inc
Language: English
Date published: 08/2021
Academic Unit: Pathology; Surgery
Record Identifier: 9984184000602771

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