Hereditary and Familial Colorectal Cancer

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

Deadline for manuscript submissions: 31 December 2024 | Viewed by 745

Special Issue Editors


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Guest Editor
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Interests: gastrointestinal cancer; gastric cancer; colorectal cancer; lynch syndrome; pancreatic cancer

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Guest Editor
The Ohio State University Wexner Medical Center, Columbus, OH, USA
Interests: gastroenterology

Special Issue Information

Dear Colleagues,

Hereditary and familial colorectal cancers represent nearly a quarter of all colorectal cancers diagnosed. This is caused by identifiable pathogenic germline variants in colorectal cancer risk genes, leading to known hereditary colorectal cancer risk syndromes such as Lynch syndrome or familial adenomatous polyposis (FAP), or may be also related to other familial factors that are less well defined. Identification of and germline genetic testing for these high-risk individuals and families is of paramount importance in terms of allowing for syndrome identification and risk stratification. Enhanced colorectal cancer and often extra-colonic cancer screening is important in terms of reduce morbidity and mortality in inidividuals with hereditary and familial colorectal cancer risk. Finally, cancer prevention through lifestyle modifications and chemoprevention may have a substantial impact on future cancer risk. This Special Issue of Cancers will be focused on hereditary and familial colorectal cancer, with a focus on identification of high-risk individuals and families, genetic testing, risk assessment, screening implementation and outcomes, and cancer prevention.

Dr. Bryson W. Katona
Dr. Peter P. Stanich
Guest Editors

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Keywords

  • hereditary colorectal cancer
  • familial colorectal cancer
  • genetic predisposition
  • polyposis
  • Lynch syndrome
  • familial adenomatous polyposis (FAP)
  • MUTYH-associated polyposis (MAP)
  • genetic testing

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Published Papers (1 paper)

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Research

14 pages, 1085 KiB  
Article
Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps
by Candida Fasano, Filomena Cariola, Giovanna Forte, Antonia Lucia Buonadonna, Paola Sanese, Andrea Manghisi, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Vittoria Disciglio and Cristiano Simone
Cancers 2024, 16(21), 3617; https://doi.org/10.3390/cancers16213617 - 26 Oct 2024
Viewed by 488
Abstract
Background: Hereditary polyposis syndromes are clinically and genetically heterogeneous conditions associated with increased colorectal cancer risk. They are classified based on polyp histology, inheritance mode, causal gene, and colonic and extracolonic manifestations. Their diagnosis is challenging due to overlapping and heterogeneous clinical [...] Read more.
Background: Hereditary polyposis syndromes are clinically and genetically heterogeneous conditions associated with increased colorectal cancer risk. They are classified based on polyp histology, inheritance mode, causal gene, and colonic and extracolonic manifestations. Their diagnosis is challenging due to overlapping and heterogeneous clinical presentations. Methods: A multigene next-generation sequencing panel was used to screen 75 index cases with colorectal polyps and a personal/family history of cancer for key hereditary polyposis-associated genes (APC, BMPR1A, MUTYH, PTEN, SMAD4, and STK11) in order to identify germline genetic variants. Results: In the screened index cases, we found 14 pathogenic variants involving APC, MUTYH, SMAD4, and STK11 and 6 variants of uncertain significance involving APC, BMPR1A, and SMAD4. In this cohort, four patients not fulfilling the recommended eligibility criteria of current National Comprehensive Cancer Network (NCCN) guidelines for genetic testing were molecularly diagnosed with a hereditary polyposis syndrome. Conclusions: Our findings indicate that stringent NCCN eligibility criteria for molecular screening may lead to missing some of the patients affected by hereditary polyposis syndromes. This highlights the need for a careful evaluation of patients’ clinical manifestations, polyp number, age of polyp onset, and family history to select appropriate candidates for molecular diagnosis of these conditions. Full article
(This article belongs to the Special Issue Hereditary and Familial Colorectal Cancer)
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