Article
Genetics & Heredity
Malene Djursby, Thomas van Overeem Hansen, Karin A. W. Wadt, Majbritt Busk Madsen, Lukas Adrian Berchtold, Charlotte Kvist Lautrup, Sara Markholt, Uffe Birk Jensen, Lotte Nylandsted Krogh, Malene Lundsgaard, Anne Marie Gerdes, Mef Nilbert, Christina Therkildsen
Summary: The genetic background of familial, late-onset colorectal cancer is not well studied, and the contribution of known or suggested CRC predisposition genes to late-onset CRC is still unclear. In this study, pathogenic variants were identified in MSH6, MUTYH, and NTHL1 genes, while variants of unknown significance were found in MSH6. Screening using a comprehensive cancer gene panel in families with late-onset CRC does not have significant clinical value. Only patients with abnormal MMR immunohistochemistry or microsatellite instability, suggestive of Lynch syndrome, or a family history indicating another cancer predisposition syndrome should be prioritized for genetic evaluations. The presence of variants in MSH6 and MUTYH genes suggests the involvement of complex inheritance patterns in late-onset CRC.
Article
Gastroenterology & Hepatology
Cong Li, Wang Song, Yun Xu, Tianan Guo, Xiaoyan Zhou, Fangqi Liu, Ye Xu
Summary: This study aimed to develop a time-saving approach to diagnosing hereditary colorectal cancer (HCRC). The ColonCore method using tumor-only-based NGS data showed high sensitivity and positive predictive value in diagnosing LS and FAP. NGS tests are essential for precision diagnosis and treatment in CRC patients.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Oncology
Naohiro Tomita, Hideyuki Ishida, Kohji Tanakaya, Tatsuro Yamaguchi, Kensuke Kumamoto, Toshiaki Tanaka, Takao Hinoi, Yasuyuki Miyakura, Hirotoshi Hasegawa, Tetsuji Takayama, Hideki Ishikawa, Takeshi Nakajima, Akiko Chino, Hideki Shimodaira, Akira Hirasawa, Yoshiko Nakayama, Shigeki Sekine, Kazuo Tamura, Kiwamu Akagi, Yuko Kawasaki, Hirotoshi Kobayashi, Masami Arai, Michio Itabashi, Yojiro Hashiguchi, Kenichi Sugihara
Summary: Hereditary colorectal cancer (HCRC) accounts for < 5% of all colorectal cancer cases and has unique characteristics such as early age of onset, synchronous/metachronous cancer occurrence, and multiple cancers in other organs. Guidelines for hereditary disorders have been published worldwide, with Japan releasing its first HCRC guideline in 2012.
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY
(2021)
Review
Oncology
Rami James N. Aoun, Matthew F. Kalady
Summary: Approximately 5% of colorectal cancers are caused by inherited colorectal cancer syndromes. Identifying specific genetic pathogenic variants can quantify the increased risks associated with these syndromes. Stratifying risks and individualized management strategies based on pathogenic variants can influence the timing and extent of surgery. For Familial Adenomatous Polyposis (FAP), prophylactic surgery is recommended before cancer develops. Lynch syndrome, on the other hand, may require total abdominal colectomy as prophylaxis due to the likelihood of metachronous colorectal cancer.
SURGICAL ONCOLOGY-OXFORD
(2022)
Review
Cell Biology
Maria Daca Alvarez, Isabel Quintana, Mariona Terradas, Pilar Mur, Francesc Balaguer, Laura Valle
Summary: Early-onset colorectal cancer (EOCRC), diagnosed before age 50, comprises 10-12% of all new cases and its incidence is increasing. Approximately 13% of EOCRC patients carry pathogenic germline variants in known cancer predisposition genes, including 2.5% with germline pathogenic variants in hereditary cancer genes traditionally not associated with CRC predisposition. The high prevalence of hereditary cancer syndromes and familial history among EOCRC patients supports further research into the genetic background of this common disease.
Article
Oncology
Kathryn A. Mraz, Rachel Hodan, Linda Rodgers-Fouche, Sanjeevani Arora, Francesc Balaguer, Jose G. Guillem, Joanne M. Jeter, Priyanka Kanth, Dan Li, David Liska, Joshua Melson, Kimberly Perez, Charite Ricker, Brian H. Shirts, Eduardo Vilar, Bryson W. Katona, Mev Dominguez-Valentin
Summary: The preferences and approaches for chemoprevention in Lynch syndrome and APC-associated polyposis have not been previously explored. A survey was conducted to describe current chemoprevention strategies for patients with these conditions practiced by members of four international hereditary cancer societies. The results showed significant heterogeneity in how chemoprevention is applied in clinical practice.
FRONTIERS IN ONCOLOGY
(2023)
Article
Oncology
Karolin Bucksch, Silke Zachariae, Aysel Ahadova, Stefan Aretz, Reinhard Buttner, Heike Goergens, Elke Holinski-Feder, Robert Hueneburg, Matthias Kloor, Magnus Knebel Doeberitz, Swetlana Ladigan-Badura, Gabriela Moeslein, Monika Morak, Jacob Nattermann, Huu Phuc Nguyen, Claudia Perne, Silke Redler, Ariane Schmetz, Verena Steinke-Lange, Harald Surowy, Deepak B. Vangala, Juergen Weitz, Markus Loeffler, Christoph Engel
Summary: This study aimed to characterize and compare the risks for adenoma and CRC in Lynch syndrome (LS), Lynch-like syndrome (LLS) and familial colorectal cancer type X (FCCX). The study found similar risks for colorectal adenomas, but different risks for first and metachronous CRC between the three risk groups, with CRC risk highest in LS, followed by LLS and lowest in FCCX. Male sex and a prevalent adenoma in the index colonoscopy were associated with a higher risk for incident adenoma and CRC.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Review
Oncology
Jessica M. Long, Jessica Ebrahimzadeh, Peter P. Stanich, Bryson W. Katona
Summary: Gastric cancer is a major global cause of cancer-related morbidity and mortality. Known modifiable risk factors include H. pylori infection, geography, diet, tobacco, and alcohol. Various hereditary cancer predisposition syndromes are also strongly linked to gastric cancer risk. Endoscopic surveillance in these syndromes can assist in early detection, prevention, and improved treatment outcomes. However, there are still uncertainties surrounding the use of endoscopic surveillance in these high-risk individuals.
CANCER MANAGEMENT AND RESEARCH
(2022)
Article
Gastroenterology & Hepatology
John Gasdal Karstensen, Steffen Bulow, Helle Hojen, Anne Marie Jelsig, Niels Jespersen, Klaus Kaae Andersen, Mads Damsgaard Wewer, Johan Burisch, Hans Christian Pommergaard
Summary: This study found that patients with familial adenomatous polyposis (FAP) have a significantly higher risk of developing cancer compared to controls, mainly due to increased risks of colorectal, pancreatic, and duodenal/small-bowel cancers. Additionally, the risk of developing a second primary cancer is also significantly higher for FAP patients.
Article
Oncology
Kyoko Yoshizaki, Akihiro Hirata, Naohito Nishii, Mifumi Kawabe, Minami Goto, Takashi Mori, Hiroki Sakai
Summary: The increase in cases of gastrointestinal (GI) polyps in Jack Russell Terriers in Japan has been linked to adenomas or adenocarcinomas. The presence of heterozygous germline APC mutations in all examined JRTs with GI polyps suggests a strong association with this cancer-prone disorder. Somatic mutation and loss of the wild-type APC allele in the GI tumors of JRTs indicate that biallelic APC inactivation is involved in tumor development in dogs.
Article
Gastroenterology & Hepatology
Ophir Gilad, Charles Muller, Sonia S. Kupfer
Summary: Cancer prevention in hereditary gastrointestinal predisposition syndromes primarily relies on intensive screening or prophylactic surgery. The use of chemopreventive agents as an adjunct has been studied, but only few compounds have been found effective, safe, and tolerable for widespread use. Many studies in these rare syndromes suffer from small sample sizes, heterogeneous cohorts, short follow-up duration, and lack of standardized endpoints.
CLINICS IN COLON AND RECTAL SURGERY
(2023)
Review
Gastroenterology & Hepatology
Abdullah A. Ghaddaf, Muhammad Aziz, Mohammed S. Alomari, Ahmed S. Abdulhamid, Fahad A. Alharbi, Abdullah N. Mullah, Syed Fasial Zaidi
Summary: Daily aspirin use can significantly reduce the risk of developing colorectal adenomas within 5 years, but its preventive effect on advanced lesions is only maintained up to 5 years, and diminishes beyond that.
INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
(2021)
Review
Oncology
Chiara Alquati, Anna Prossomariti, Giulia Piazzi, Francesco Buttitta, Franco Bazzoli, Luigi Laghi, Luigi Ricciardiello
Summary: Colorectal cancer (CRC) is a common malignancy that develops through a multi-step process involving genetic, epigenetic, and molecular alterations. Genetic profiling of early colorectal lesions is essential for developing risk-based preventive strategies in both hereditary and sporadic settings.
Article
Cell Biology
Irene Gullo, Rachel S. van der Post, Fatima Carneiro
Summary: Despite being rare, recognizing key features of hereditary gastric cancer syndromes is essential for appropriate treatment. The article focuses on HDGC and emphasizes the importance of understanding different phenotypes of lesions, as well as the increased risk of gastric malignancies in patients with other hereditary cancer syndromes.
Review
Gastroenterology & Hepatology
Karoline Horisberger, Carolina Mann, Hauke Lang
Summary: Approximately 5% of colorectal cancers are associated with hereditary cancer syndromes, which have different natural histories and surgical approaches. This review focuses on the surgical treatment recommendations and evidence for Lynch syndrome and (attenuated) familial adenomatous polyposis.
