Lynch Syndrome (HNPCC): Symptoms, Causes, and Outlooks
A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".
Deadline for manuscript submissions: 1 May 2025 | Viewed by 456
Special Issue Editor
Interests: Lynch syndrome; FAP; MAP; Cowden syndrome; PTEN hamartoma tumor syndrome; epithelial–mesenchymal transition; study of low risk-alleles; functional assay of unclassified MMR variants
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Lynch syndrome (LS) is an autosomal dominant genetic disorder associated with germline mutations in DNA mismatch repair (MMR) genes. Carriers of pathogenic variants in these genes are at increased risk of developing colorectal cancer and/or LS-associated cancer. The loss of the MMR complex determines, at the somatic level (colorectal cancer), a condition defined as microsatellite instability (MSI) or mismatch repair deficiency (dMMR). Unfortunately, not all colorectal cancers with MSI or dMMR have pathogenic germline mutations in the MMR genes. This condition also often occurs in families with a strong predisposition to the development of tumors; therefore, the identification of genetic predisposition as a cause of cancer becomes very important for the preventive management of these families. Next-generation sequencing (NGS) applied to detect germline pathogenetic variants in subjects with dMMR/MSI cancer is now carried out through the use of panels that use an increasing number of predisposition genes, allowing the identification of pathogenic variants in genes not associated with Lynch syndrome. At the same time, the application of NGS also identifies a substantial number of rare genetic variants of uncertain significance in the MMR genes that could also be the cause of pathology, except that, in these cases, the pathogenetic assessment requires further molecular biology investigations, such as functional assays. The correct interpretation of all the variants that could be the cause of the onset of the tumor is of fundamental importance for the decision-making process on treatment as well as for the prognosis and endoscopic management of carrier patients and their healthy family members. This Special Issue will highlight all of these aspects of Lynch syndrome in order to advance our knowledge on the best path forward for the management of patients with Lynch syndrome.
In this Special Issue, original research articles and reviews are welcome.
I look forward to receiving your contributions.
Dr. Francesca Duraturo
Guest Editor
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Keywords
- Lynch syndrome
- genotype–phenotype correlation
- highly immunogenic frame-shift neo-peptides
- immunotherapy
- mismatch repair genes
- unclassified genetic variants
- new role of MMR proteins
- miRNAs
- functional assay MMR deficiency
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