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Year Number of Results
2000 1
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2012 7
2013 4
2014 3
2015 5
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2023 6
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78 results

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Page 1
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.
Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms of colorectal carcinogenesis. This review summarises the genetic and pathological alterations in hereditary CRC syndromes....
Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms …
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.
Gastric cancer can also be observed as part of other inherited cancer disorders, namely in familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Lynch syndrome, Li-Fraumeni syndrome, Cowden syndrome, …
Gastric cancer can also be observed as part of other inherited cancer disorders, namely in familial adenomatous polyposis, MUTYH-associated …
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.
This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome …
This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated fam …
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.
However, some other genetic disorders confer an increased risk of colorectal cancer, such as Li-Fraumeni syndrome (TP53 gene), MUTYH-associated polyposis (MUTYH gene), Peutz-Jeghers syndrome (STK11 gene), Cowden syndrome (PTEN gene), and juvenile polyposis syndro …
However, some other genetic disorders confer an increased risk of colorectal cancer, such as Li-Fraumeni syndrome (TP53 gene), MUTYH-associa …
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.
In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. ...This review discusses clinical manifestations, genetics, pathogenesis and management of juvenile polyposis …
In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene …
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 …
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. ...The oncological risk justifies and imposes prevention strategies that aim at the cancer risk reduction through endosco …
Juvenile polyposis syndrome (JPS) is a rare precancerous condition that confers an increased risk of developing gastroi …
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. To better assess this, we conducted a systematic review and meta-analysis. M …
BACKGROUND AND AIMS: The true rate of gastric cancer (GC) in juvenile polyposis syndrome (JPS) is unknown because of it …
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).
Monahan KJ, Bradshaw N, Dolwani S, Desouza B, Dunlop MG, East JE, Ilyas M, Kaur A, Lalloo F, Latchford A, Rutter MD, Tomlinson I, Thomas HJW, Hill J; Hereditary CRC guidelines eDelphi consensus group. Monahan KJ, et al. Gut. 2020 Mar;69(3):411-444. doi: 10.1136/gutjnl-2019-319915. Epub 2019 Nov 28. Gut. 2020. PMID: 31780574 Free PMC article.
On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a partner to BSG and ACPGBI in the multidisciplinary guideline development process. We also invited external review through the Delphi pro …
On this occasion we invited the UK Cancer Genetics Group (UKCGG), a subgroup within the British Society of Genetic Medicine (BSGM), as a par …
Hamartomatous polyps: Diagnosis, surveillance, and management.
Gorji L, Albrecht P. Gorji L, et al. World J Gastroenterol. 2023 Feb 28;29(8):1304-1314. doi: 10.3748/wjg.v29.i8.1304. World J Gastroenterol. 2023. PMID: 36925460 Free PMC article. Review.
These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations, which require conscientious and diligent monitoring. Peutz-Jeghers syndrome, Cowden syndrome, and juvenile polyposis syndrome are the most common …
These syndromes exhibit hamartomatous gastrointestinal polyps in conjunction to extra-intestinal manifestations, which require conscientious …
78 results