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Page 1
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology. Syngal S, et al. Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3. Am J Gastroenterol. 2015. PMID: 25645574 Free PMC article. Review.
Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive ap …
Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making …
Pathology and genetics of hereditary colorectal cancer.
Ma H, Brosens LAA, Offerhaus GJA, Giardiello FM, de Leng WWJ, Montgomery EA. Ma H, et al. Pathology. 2018 Jan;50(1):49-59. doi: 10.1016/j.pathol.2017.09.004. Epub 2017 Nov 21. Pathology. 2018. PMID: 29169633 Review.
Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In …
Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH …
Smad4/DPC4.
McCarthy AJ, Chetty R. McCarthy AJ, et al. J Clin Pathol. 2018 Aug;71(8):661-664. doi: 10.1136/jclinpath-2018-205095. Epub 2018 May 2. J Clin Pathol. 2018. PMID: 29720405 Review.
However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers.Immunohistochemistry for smad4/DPC4 protein is most useful in sepa …
However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and withou …
Familial and hereditary gastric cancer, an overview.
Carneiro F. Carneiro F. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101800. doi: 10.1016/j.bpg.2022.101800. Epub 2022 May 4. Best Pract Res Clin Gastroenterol. 2022. PMID: 35988963 Review.
There are three major hereditable syndromes that affect primarily the stomach: hereditary diffuse gastric cancer (HDGC), gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) and familial intestinal gastric cancer (FIGC). ...Gastric cancer can also be observ …
There are three major hereditable syndromes that affect primarily the stomach: hereditary diffuse gastric cancer (HDGC), gastric adenocarcin …
Juvenile polyposis syndrome: An overview.
Dal Buono A, Gaiani F, Poliani L, Laghi L. Dal Buono A, et al. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101799. doi: 10.1016/j.bpg.2022.101799. Epub 2022 Apr 4. Best Pract Res Clin Gastroenterol. 2022. PMID: 35988962 Free article. Review.
Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers. ...JPS should be clinically suspected when the other hamartomatous polyposis syndromes are excluded (i.e., Peutz- …
Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastroi …
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Rebuzzi F, Ulivi P, Tedaldi G. Rebuzzi F, et al. Int J Mol Sci. 2023 Jan 21;24(3):2137. doi: 10.3390/ijms24032137. Int J Mol Sci. 2023. PMID: 36768460 Free PMC article. Review.
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of the key risk factors in the development of this malignancy. Lynch syndrome and familial adenomatous polyposis are the best-known genetic diseases associated with hereditary colo …
Colorectal cancer is one of the most common tumors, and genetic predisposition is one of the key risk factors in the development of this mal …
Juvenile polyposis syndrome.
Brosens LA, Langeveld D, van Hattem WA, Giardiello FM, Offerhaus GJ. Brosens LA, et al. World J Gastroenterol. 2011 Nov 28;17(44):4839-44. doi: 10.3748/wjg.v17.i44.4839. World J Gastroenterol. 2011. PMID: 22171123 Free PMC article. Review.
Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. ...Clinically, juvenile polyposis syn …
Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile …
Occurrence of gastric cancer in patients with juvenile polyposis syndrome: a systematic review and meta-analysis.
Singh AD, Gupta A, Mehta N, Heald B, Macaron C, Liska D, Bhatt A, Burke CA. Singh AD, et al. Gastrointest Endosc. 2023 Mar;97(3):407-414.e1. doi: 10.1016/j.gie.2022.10.026. Epub 2022 Oct 18. Gastrointest Endosc. 2023. PMID: 36265529 Review.
BACKGROUND AND AIMS: The true rate of gastric cancer (GC) in juvenile polyposis syndrome (JPS) is unknown because of its rarity and ascertainment bias in published literature. ...METHODS: MEDLINE, Embase, and Scopus databases were searched for the key words …
BACKGROUND AND AIMS: The true rate of gastric cancer (GC) in juvenile polyposis syndrome (JPS) is unknown because of it …
Juvenile polyposis: Focus on less described manifestations.
Saurin JC, Calavas L, Caillot C. Saurin JC, et al. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101802. doi: 10.1016/j.bpg.2022.101802. Epub 2022 Aug 4. Best Pract Res Clin Gastroenterol. 2022. PMID: 35988968 Review.
Juvenile polyposis represents an heterogeneous disease as different genetic dominant backgrounds have been evidenced leading to different clinical presentations. ...This paper will focus on the poorly known and evaluated aspects of juvenile polyposis, …
Juvenile polyposis represents an heterogeneous disease as different genetic dominant backgrounds have been evidenced leading t …
Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.
Gao XH, Li J, Zhao ZY, Xu XD, Du YQ, Yan HL, Liu LJ, Bai CG, Zhang W. Gao XH, et al. BMC Gastroenterol. 2020 Jun 1;20(1):167. doi: 10.1186/s12876-020-01238-7. BMC Gastroenterol. 2020. PMID: 32487124 Free PMC article. Review.
BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. ...Ten polyps were selected for pathological examinatio …
BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile …
62 results