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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1998 4
1999 3
2000 6
2001 3
2002 3
2003 2
2004 1
2005 2
2006 4
2007 7
2008 2
2009 1
2010 4
2011 5
2012 8
2013 7
2014 6
2015 8
2016 2
2017 6
2018 4
2019 7
2020 4
2021 5
2022 7
2023 7
2024 5

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111 results

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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.
When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing …
When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family hi …
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.
GAPPS is caused by germline mutations in the promoter 1B of APC gene, and the genetic cause of FIGC is not fully elucidated. Gastric cancer can also be observed as part of other inherited cancer disorders, namely in familial adenomatous polyposis, MUTYH-associated polyposi …
GAPPS is caused by germline mutations in the promoter 1B of APC gene, and the genetic cause of FIGC is not fully elucidated. Gastric cancer …
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
Mighell TL, Evans-Dutson S, O'Roak BJ. Mighell TL, et al. Am J Hum Genet. 2018 May 3;102(5):943-955. doi: 10.1016/j.ajhg.2018.03.018. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706350 Free PMC article.
Further, we created a comprehensive functional map by leveraging correlations between amino acid substitutions to impute functional scores for all variants, including those not present in the assay. Variant functional scores can reliably discriminate likely pathogen …
Further, we created a comprehensive functional map by leveraging correlations between amino acid substitutions to impute functional score …
Identification, genetic testing, and management of hereditary melanoma.
Leachman SA, Lucero OM, Sampson JE, Cassidy P, Bruno W, Queirolo P, Ghiorzo P. Leachman SA, et al. Cancer Metastasis Rev. 2017 Mar;36(1):77-90. doi: 10.1007/s10555-017-9661-5. Cancer Metastasis Rev. 2017. PMID: 28283772 Free PMC article.
Syndromes in which melanoma is a predominant cancer type are considered melanoma dominant, although other cancers, such as mesothelioma or pancreatic cancers, may also be observed. These syndromes are associated with defects in CDKN2A, CDK4, BAP1, MITF, and POT1. Melanoma- …
Syndromes in which melanoma is a predominant cancer type are considered melanoma dominant, although other cancers, such as mesothelioma or p …
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C. Tan MH, et al. Am J Hum Genet. 2011 Jan 7;88(1):42-56. doi: 10.1016/j.ajhg.2010.11.013. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194675 Free PMC article.
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively referred to as PTEN hamartoma tumor syndrome. ...In order to obtain an individualized estimation of pretest probability of germline PTEN muta …
Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome are allelic, defined by germline PTEN mutations, and collectively r …
Strong Hereditary Predispositions to Colorectal Cancer.
Hryhorowicz S, Kaczmarek-Ryś M, Lis-Tanaś E, Porowski J, Szuman M, Grot N, Kryszczyńska A, Paszkowski J, Banasiewicz T, Pławski A. Hryhorowicz S, et al. Genes (Basel). 2022 Dec 10;13(12):2326. doi: 10.3390/genes13122326. Genes (Basel). 2022. PMID: 36553592 Free PMC article. Review.
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). ...This group includes familial adenomatous polyposis, attenuated familial adenomato …
Cancer is one of the most common causes of death worldwide. A strong predisposition to cancer is generally only observed in colorecta …
Molecular pathology of skin adnexal tumours.
Plotzke JM, Adams DJ, Harms PW. Plotzke JM, et al. Histopathology. 2022 Jan;80(1):166-183. doi: 10.1111/his.14441. Histopathology. 2022. PMID: 34197659 Review.
Adnexal tumours often present as solitary sporadic lesions, but can herald the presence of an inherited tumour syndrome such as Muir-Torre syndrome, Cowden syndrome or CYLD cutaneous syndrome. In contrast to squamous cell carcinoma and basal cell carcinoma, molecula …
Adnexal tumours often present as solitary sporadic lesions, but can herald the presence of an inherited tumour syndrome such as Muir-Torre s …
Thyroid Tumors You Don't Want to Miss.
Wong KS, Barletta JA. Wong KS, et al. Surg Pathol Clin. 2019 Dec;12(4):901-919. doi: 10.1016/j.path.2019.08.008. Surg Pathol Clin. 2019. PMID: 31672297 Review.
This article examines more uncommon thyroid entities, including anaplastic thyroid carcinoma, poorly differentiated thyroid carcinoma, rare papillary thyroid carcinoma variants, medullary thyroid carcinoma, non-invasive follicular thyroid neoplasm with papillary-like nuclear feat …
This article examines more uncommon thyroid entities, including anaplastic thyroid carcinoma, poorly differentiated thyroid carcinoma, rare …
An update on the CNS manifestations of brain tumor polyposis syndromes.
Kim B, Tabori U, Hawkins C. Kim B, et al. Acta Neuropathol. 2020 Apr;139(4):703-715. doi: 10.1007/s00401-020-02124-y. Epub 2020 Jan 22. Acta Neuropathol. 2020. PMID: 31970492 Review.
The former include constitutional mismatch repair deficiency (CMMRD) syndrome, Li-Fraumeni syndrome (LFS), and Cowden syndrome (CS) while the latter include familial adenomatosis polyposis 1 (FAP1), Lynch syndrome and polymerase proofreading-associated polyposis syn …
The former include constitutional mismatch repair deficiency (CMMRD) syndrome, Li-Fraumeni syndrome (LFS), and Cowden syndrome …
111 results