Advances in Hereditary Colorectal Cancer: Diagnosis and Treatment

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Therapy".

Deadline for manuscript submissions: 12 September 2024 | Viewed by 1363

Special Issue Editor


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Guest Editor
University of Colorado Cancer Center, Aurora, CO 80045, USA
Interests: colorectal cancer; cancer prevention; early detection; survivorship

Special Issue Information

Dear Colleagues,

Hereditary colorectal cancer syndromes account for 5-10% of all colorectal cancers and the most common forms are Lynch syndrome and familial adenomatous polyposis (FAP). Identifying persons at risk for hereditary colorectal cancer remains challenging, yet is critical for guiding prevention strategies, and for informing appropriate diagnostic tests and treatment. Furthermore, it is important that at-risk persons of all backgrounds have access to proper diagnostic and treatment options.

This Special Issue will focus on novel and effective approaches to optimize the diagnosis and treatment of hereditary colorectal cancer. Although treatment strategies differ based on the molecular and genetic profile of tumors, only a subset of tumors (colon and other Lynch-related tumors) undergo these diagnostic tests.

Manuscripts will be solicited from top experts in the field covering (1) approaches to optimizing the diagnosis of hereditary colorectal cancer, (2) targeted therapies for treating hereditary colorectal cancer, and (3) strategies to assure equity for the diagnosis and treatment of hereditary colorectal cancer.

Dr. Jan T. Lowery
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hereditary colorectal cancer
  • colon cancer
  • rectal cancer
  • diagnosis
  • targeted therapies
  • treatment

Published Papers (1 paper)

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18 pages, 635 KiB  
Review
Lynch Syndrome: From Multidisciplinary Management to Precision Prevention
by Arianna Dal Buono, Alberto Puccini, Gianluca Franchellucci, Marco Airoldi, Michela Bartolini, Paolo Bianchi, Armando Santoro, Alessandro Repici and Cesare Hassan
Cancers 2024, 16(5), 849; https://doi.org/10.3390/cancers16050849 - 20 Feb 2024
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Abstract
Background and Aims: Lynch syndrome (LS) is currently one of the most prevalent hereditary cancer conditions, accounting for 3% of all colorectal cancers and for up to 15% of those with DNA mismatch repair (MMR) deficiency, and it was one of the first [...] Read more.
Background and Aims: Lynch syndrome (LS) is currently one of the most prevalent hereditary cancer conditions, accounting for 3% of all colorectal cancers and for up to 15% of those with DNA mismatch repair (MMR) deficiency, and it was one of the first historically identified. The understanding of the molecular carcinogenesis of LS tumors has progressed significantly in recent years. We aim to review the most recent advances in LS research and explore genotype-based approaches in surveillance, personalized cancer prevention, and treatment strategies. Methods: PubMed was searched to identify relevant studies, conducted up to December 2023, investigating molecular carcinogenesis in LS, surveillance strategies, cancer prevention, and treatment in LS tumors. Results: Multigene panel sequencing is becoming the benchmark in the diagnosis of LS, allowing for the detection of a pathogenic constitutional variant in one of the MMR genes. Emerging data from randomized controlled trials suggest possible preventive roles of resistant starch and/or aspirin in LS. Vaccination with immunogenic frameshift peptides appears to be a promising approach for both the treatment and prevention of LS-associated cancers, as evidenced by pre-clinical and preliminary phase 1/2a studies. Conclusions: Although robust diagnostic algorithms, including prompt testing of tumor tissue for MMR defects and referral for genetic counselling, currently exist for suspected LS in CRC patients, the indications for LS screening in cancer-free individuals still need to be refined and standardized. Investigation into additional genetic and non-genetic factors that may explain residual rates of interval cancers, even in properly screened populations, would allow for more tailored preventive strategies. Full article
(This article belongs to the Special Issue Advances in Hereditary Colorectal Cancer: Diagnosis and Treatment)
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