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Genetic Predispositions to Tumors of the Digestive System
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Genetic Predispositions to Tumors of the Digestive System

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 June 2023) | Viewed by 9720

Special Issue Editors

Prof. Dr. Andrzej Pławski

E-Mail Website
Guest Editor
Institute of Human Genetics of the Polish Academy of Sciences, 60-479 Poznan, Poland
Interests: digestive system tumors; genetic basis; genetic predisposition
Dr. Szymon Hryhorowicz

E-Mail Website
Guest Editor
Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland
Interests: gastrointestinal tumors; inflammatory bowel disease; the endocannabinoid system; cannabinoid receptor; cannabis; ulcerative colitis; Crohn's disease
Dr. Marta Kaczmarek-Rys

E-Mail Website
Guest Editor
Institute of Human Genetics, Polish Academy of Sciences, 60-479 Poznan, Poland
Interests: gastrointestinal tumors; inflammatory bowel disease
Prof. Dr. Tadeusz Dębníak

E-Mail Website
Guest Editor
International Hereditary Cancer Center, Department of Genetics and Patomorphology Pomeranian Medical University, Szczecin, Poland
Interests: gastrointestinal tumors; inflammatory bowel disease

Special Issue Information

Dear Colleagues,

We would like to invite you to participate in this Special Issue, “Genetic Predispositions to Tumors of the Digestive System.”

Tumors in the digestive system include the neoplasm of the gastrointestinal tract from the mouth through successive parts of the digestive tract down to the anus and tumors of the pancreas, liver, and biliary tract. Identifying genetic factors that increase the risk of digestive system tumors will improve prevention and patient care.

Here, we aim to present the latest discoveries and organize the knowledge of predisposition to digestive-system tumors, strong predisposition (frequent or rare) and genetic factors that increase risk at a lower level, as this knowledge is becoming increasingly important.

This Special Issue aims to present original research and review papers that help in our understanding of the genetic basis of digestive-system tumors and apply this knowledge in prevention and treatment. New findings, confirmatory results, and conflicting results will also be considered for publication.

Prof. Dr. Andrzej Pławski
Dr. Szymon Hryhorowicz
Dr. Marta Kaczmarek-Rys
Prof. Dr. Tadeusz Dȩbníak
Guest Editors

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. Genes is an international peer-reviewed open access monthly 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 2600 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

  • digestive-system tumors
  • gastrointestinal tumors
  • pancreas tumors
  • liver tumor
  • biliary tumors
  • genetic basis

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Published Papers (3 papers)

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Review

13 pages, 1158 KiB  
Review
SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update
by Angela Schipani, Margherita Nannini, Annalisa Astolfi and Maria A. Pantaleo
Genes 2023, 14(3), 646; https://doi.org/10.3390/genes14030646 - 4 Mar 2023
Cited by 5 | Viewed by 3050
Abstract
Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes the repression of SDHC transcription and depletion [...] Read more.
Loss of function of the succinate dehydrogenase complex characterizes 20–40% of all KIT/PDGFRA-negative GIST. Approximately half of SDH-deficient GIST patients lack SDHx mutations and are caused by a hypermethylation of the SDHC promoter, which causes the repression of SDHC transcription and depletion of SDHC protein levels through a mechanism described as epimutation. The remaining 50% of SDH-deficient GISTs have mutations in one of the SDH subunits and SDHA mutations are the most common (30%), with consequent loss of SDHA and SDHB protein expression immunohistochemically. SDHB, SDHC, and SDHD mutations in GIST occur in only 20–30% of cases and most of these SDH mutations are germline. More recently, germline mutations in SDHA have also been described in several patients with loss of function of the SDH complex. SDHA-mutant patients usually carry two mutational events at the SDHA locus, either the loss of the wild type allele or a second somatic event in compound heterozygosis. This review provides an overview of all data in the literature regarding SDHA-mutated GIST, especially focusing on the prevalence of germline mutations in SDH-deficient GIST populations who harbor SDHA somatic mutations, and offers a view towards understanding the importance of genetic counselling for SDHA-variant carriers and relatives. Full article
(This article belongs to the Special Issue Genetic Predispositions to Tumors of the Digestive System)
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11 pages, 1028 KiB  
Review
Endoscopic Surveillance and Treatment of Upper GI Tract Lesions in Patients with Familial Adenomatous Polyposis—A New Perspective on an Old Disease
by Jacek Paszkowski, Paweł Samborski, Marcin Kucharski, Jarosław Cwaliński, Tomasz Banasiewicz and Andrzej Pławski
Genes 2022, 13(12), 2329; https://doi.org/10.3390/genes13122329 - 10 Dec 2022
Cited by 5 | Viewed by 3067
Abstract
Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by a germline mutation in the adenomatous polyposis coli (APC) gene. Patients with FAP develop up to thousands of colorectal adenomas as well as lesions in the upper GI tract. In [...] Read more.
Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by a germline mutation in the adenomatous polyposis coli (APC) gene. Patients with FAP develop up to thousands of colorectal adenomas as well as lesions in the upper GI tract. In FAP, the upper digestive lesions include gastric fundic gland polyps (FGPs), antrum adenomas, duodenal or small intestinal adenomas, and carcinoma. Patients, after colectomy, are still at significant risk for extracolonic malignancies. Advances in endoscope resolution and optical enhancement technologies allow endoscopists to provide assessments of benign and malignant polyps. For this reason, in the past decades, endoscopic resection techniques have become the first line of treatment in patients with polyps in the upper GI, whereby polyps and even early cancers can be successfully cured. In FAP patients, endoscopic ampullectomy appears to be a safe and effective way of treating patients with ampullary tumors. According to current indications, endoscopic retrograde cholangiopancreatography (ERCP) and stenting of the main pancreatic duct follow ampullectomy. Full article
(This article belongs to the Special Issue Genetic Predispositions to Tumors of the Digestive System)
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24 pages, 1101 KiB  
Review
Strong Hereditary Predispositions to Colorectal Cancer
by Szymon Hryhorowicz, Marta Kaczmarek-Ryś, Emilia Lis-Tanaś, Jakub Porowski, Marcin Szuman, Natalia Grot, Alicja Kryszczyńska, Jacek Paszkowski, Tomasz Banasiewicz and Andrzej Pławski
Genes 2022, 13(12), 2326; https://doi.org/10.3390/genes13122326 - 10 Dec 2022
Cited by 10 | Viewed by 3075
Abstract
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic [...] Read more.
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorectal cancer (5% of cases) and breast cancer (2% of cases). Colorectal cancer is the most common cancer with a strong genetic predisposition, but it includes dozens of various syndromes. This group includes familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH-associated polyposis, NTHL1-associated polyposis, Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, Lynch syndrome, and Muir–Torre syndrome. The common symptom of all these diseases is a very high risk of colorectal cancer, but depending on the condition, their course is different in terms of age and range of cancer occurrence. The rate of cancer development is determined by its conditioning genes, too. Hereditary predispositions to cancer of the intestine are a group of symptoms of heterogeneous diseases, and their proper diagnosis is crucial for the appropriate management of patients and their successful treatment. Mutations of specific genes cause strong colorectal cancer predispositions. Identifying mutations of predisposing genes will support proper diagnosis and application of appropriate screening programs to avoid malignant neoplasm. Full article
(This article belongs to the Special Issue Genetic Predispositions to Tumors of the Digestive System)
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