This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency
Improved awareness of CMMRD in patients presenting with CMMRD-associated features can help guide IHC analysis and expedite referral to medical genetics for accurate molecular diagnosis. Consequently, timely CMMRD diagnosis improves surveillance and patient management and allows for appropriate genetic counseling for family members.
Authors
- Laura Palma (ORCID: https://orcid.org/0000-0003-0871-3577)
- Alexander Moise (ORCID: https://orcid.org/0000-0001-9438-1788)
- William D. Foulkes (ORCID: https://orcid.org/0000-0001-7427-4651)
- A. Sender Liberman (ORCID: https://orcid.org/0000-0002-4494-4834)
- Catherine Goudie (ORCID: https://orcid.org/0000-0003-0670-3121)
- Ahmed N. Mohammad (ORCID: https://orcid.org/0000-0003-0531-0422)
- William Davalan (ORCID: https://orcid.org/0009-0002-8533-5928)
- E. Rohr (ORCID: https://orcid.org/0009-0000-2068-9894)
- R.M. Abdulsalam
- A. Rizzolo (ORCID: https://orcid.org/0000-0002-2600-7361)
Institutions
- McGill University Health Centre (CA)
- Jewish General Hospital (CA)
- McGill University (CA)
Publication Details
- Journal
- ESMO Gastrointestinal Oncology
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1016/j.esmogo.2024.100111
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00