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Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers

Crossref DOI link: https://doi.org/10.1007/s10689-025-00519-y

Published Online: 2026-01-31

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Buchanan, Daniel D.

Alvarez, Rocio

Mahmood, Khalid

Clendenning, Mark

Georgeson, Peter

Walker, Romy

Como, Julia

Preston, Susan G.

Joseland, Sharelle

Mohammadsaeedi, Kimia

Aguirre, Francesca

Zhou, Lisa

Hazelett, Dennis J.

Jenkins, Mark A.

Rosty, Christophe

Winship, Ingrid M.

Macrae, Finlay A.

Dwarte, Tanya M.

Nixon, Dawn

Hitchins, Megan P.

Joo, Jihoon E.
Funding

Funding for this research was provided by:

University of Melbourne
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Text and Data Mining valid from 2026-01-31

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Article History

Received: 3 August 2025

Accepted: 1 December 2025

First Online: 31 January 2026

Conflict of interest

: The authors declare no competing interests.

: All study participants provided written informed consent. The study was conducted according to the guidelines of the Declaration of Helsinki and approved by the University of Melbourne Human Research Ethics Committee (HREC#1750748) or the Cedars-Sinai Medical Center Institutional Review Board (#Pro00049624).

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