Serrated polyps are thought to be precursors of ~15% of colorectal cancers and clinical criteria for a serrated polyposis (SP) syndrome have been proposed. In this issue of American Journal of Gastroenterology, Win et al. report that family members of individuals who meet the clinical criteria for SP are at increased risk for colorectal and possibly pancreatic cancer. The important data presented by Win et al. strongly support the concept that familial SP exists and help define the patterns of risk in this syndrome. The paper also illustrates the difficulties of trying to define a genetic syndrome on the basis of largely retrospective clinical data and highlights the importance of efforts to define the genetic basis of familial SP and to study these families in a systematic, prospective manner.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1038/ajg.2012.62 | DOI Listing |
Clin Transl Oncol
January 2025
Hereditary Cancer Unit, Medical Oncology Department, Puerta de Hierro University Hospital, Majadahonda, 28222, Madrid, Spain.
Hereditary polyposis syndromes are significant contributors to colorectal cancer (CRC). These syndromes are characterized by the development of various types and numbers of polyps, distinct inheritance patterns, and extracolonic manifestations. This review explores these syndromes with a focus on their genetic characteristics.
View Article and Find Full Text PDFJ Gastroenterol
January 2025
Department of Gastroenterology and Hepatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Fam Cancer
November 2024
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Serrated Polyposis Syndrome (SPS) is characterized by multiple and/or large serrated polyps in the colon and an increased risk of colorectal cancer (CRC). The etiology is largely unknown, but in a subset of patients with SPS, monoallelic pathogenic variants in RNF43 are detected. To date, however, the penetrance and phenotypic spectrum of patients carrying pathogenic variants (PV) in RNF43 are poorly described.
View Article and Find Full Text PDFColorectal cancer (CRC) is the third most common type of cancer in Switzerland in terms of annual new cases and cancer deaths. Since most cantons have an organized screening program, more people are recorded with a positive family history of CRC. In the majority, the familial form of CRC is present, a hereditary form is much less common.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Molecular Pathobiology Research Unit (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.
Serrated polyposis syndrome (SPS) is characterized by the development of multiple colorectal serrated polyps and increased predisposition to colorectal cancer (CRC). However, the molecular basis of SPS, especially in cases presenting family history of SPS and/or polyps and/or CRC in first-degree relatives (SPS-FHP/CRC), is still poorly understood. In a previous study, we proposed the existence of two molecular entities amongst SPS-FHP/CRC families, proximal/whole-colon and distal SPS-FHP/CRC, according to the preferential location of lesions and somatic events involved in tumor initiation.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!