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

Research output: Contribution to journalArticlepeer-review

Abstract

Background: 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. Methods: 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. Results: 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. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)408-412
Number of pages5
JournalAmerican journal of surgery
Volume222
Issue number2
DOIs
StatePublished - Aug 2021

Bibliographical note

Publisher Copyright:
© 2020

Keywords

  • Genetic counseling
  • Lynch syndrome
  • Mismatch repair deficiency
  • Surgical management

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