Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients
Our findings demonstrate that MSH2 LGRs occur at a notable frequency among Pakistani CRC patients, with a recurrent 5' upstream deletion representing a potential Punjabi founder variant. Inclusion of this deletion into targeted genetic testing panels may enhance diagnostic yield and improve risk stratification for CRC in Pakistan.
Authors
- Humaira Naeemi
- Muhammed Aasim Yusuf (ORCID: https://orcid.org/0000-0003-1943-2746)
- Muhammad Usman Rashid (ORCID: https://orcid.org/0000-0002-7684-3122)
- Asif Loya (ORCID: https://orcid.org/0000-0003-2716-5027)
- Noor Muhammad (ORCID: https://orcid.org/0000-0001-6811-5064)
Institutions
- Shaukat Khanum Memorial Cancer Hospital and Research Center (PK)
Publication Details
- Journal
- Hereditary Cancer in Clinical Practice
- Published
- 2025-11-19
- DOI
- https://doi.org/10.1186/s13053-025-00327-6
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Pomorski Uniwersytet Medyczny W Szczecinie