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1986 2
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The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.
Desmoid Tumor Working Group. Desmoid Tumor Working Group. Eur J Cancer. 2020 Mar;127:96-107. doi: 10.1016/j.ejca.2019.11.013. Epub 2020 Jan 28. Eur J Cancer. 2020. PMID: 32004793 Free article. Review.
We present herein an evidence-based, joint global consensus guideline approach to the management of this disease focussing on: molecular genetics, indications for an active treatment, and available systemic therapeutic options. This paper follows a one-day consensus meetin …
We present herein an evidence-based, joint global consensus guideline approach to the management of this disease focussing on: molecular gen …
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A. Juhn E, et al. Am J Clin Dermatol. 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. Am J Clin Dermatol. 2010. PMID: 20141232 Review.
Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other di …
Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the F …
Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero A, Ferreras C, Rodriguez-Salas N, Corral D, Rodriguez L, Pérez-Martínez A. Escudero A, et al. Int J Clin Oncol. 2022 May;27(5):992-1000. doi: 10.1007/s10147-022-02133-9. Epub 2022 Feb 21. Int J Clin Oncol. 2022. PMID: 35190929
INTRODUCTION: Approximately 10% of pediatric patients with cancer have an inherited, sometimes masked, cancer predisposition syndrome (CPS). Identifying patients with genetic susceptibility to malignant disease is essential for their correct diagnosis and clinical manageme …
INTRODUCTION: Approximately 10% of pediatric patients with cancer have an inherited, sometimes masked, cancer predisposition syndrome …
Genetic testing for familial adenomatous polyposis.
Ballhausen WG. Ballhausen WG. Ann N Y Acad Sci. 2000 Jun;910:36-47; discussion 47-9. doi: 10.1111/j.1749-6632.2000.tb06699.x. Ann N Y Acad Sci. 2000. PMID: 10911904 Review.
175100) is a dominantly inherited colorectal cancer predisposition syndrome. The designation Gardner Syndrome is used for phenotypic variants of FAP with additional extracolonic symptoms. ...
175100) is a dominantly inherited colorectal cancer predisposition syndrome. The designation Gardner Syndrome is used f …
Revolutionary advances in the diagnosis and treatment of Familial Adenomatous Polyposis.
Edlich R, Cross CL, Wack CA, Chase ME, Gubler K, Long WB 3rd. Edlich R, et al. J Environ Pathol Toxicol Oncol. 2009;28(1):47-52. doi: 10.1615/jenvironpatholtoxicoloncol.v28.i1.50. J Environ Pathol Toxicol Oncol. 2009. PMID: 19392654
Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, Turcot syndrome, and Attenuated Adenomatous Polyposis Coli (AAPC). ...
Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, Turcot syndrome, and Attenuated Adeno …
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. Hegde M, et al. Genet Med. 2014 Jan;16(1):101-16. doi: 10.1038/gim.2013.166. Epub 2013 Dec 5. Genet Med. 2014. PMID: 24310308 Free article.
Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 and is inherited in an autosomal dominant manner. ...Finally, MYH-associated polyposis is caused by mutations in the MUTYH gene and is inherited in an autosomal re …
Lynch syndrome is most frequently caused by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2 and is inherited in an …
Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.
Bisgaard ML, Bülow S. Bisgaard ML, et al. Am J Med Genet A. 2006 Feb 1;140(3):200-4. doi: 10.1002/ajmg.a.31010. Am J Med Genet A. 2006. PMID: 16411234
Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. ...Osteomas appeared most frequently in patients with sebaceous cysts, odds ratio 6.6, P < 0.001. The study provides molecular evidence that Gardner synd …
Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. ...Osteomas appeared most …
Re-evaluation of in vitro radiosensitivity of human fibroblasts of different genetic origins.
Deschavanne PJ, Debieu D, Fertil B, Malaise EP. Deschavanne PJ, et al. Int J Radiat Biol Relat Stud Phys Chem Med. 1986 Aug;50(2):279-93. doi: 10.1080/09553008614550661. Int J Radiat Biol Relat Stud Phys Chem Med. 1986. PMID: 3488286
Nine groups of cell strains appear to exhibit radiosensitivity which differs significantly from that of the controls: seven groups are hypersensitive (ataxia-telangiectasia homozygotes and heterozygotes, Cockayne's syndrome, Gardner's syndrome, 5-oxoprolinuri …
Nine groups of cell strains appear to exhibit radiosensitivity which differs significantly from that of the controls: seven groups are hyper …
A standardized assay to identify colon cancer genotypes by in vitro tetraploidy in human dermal fibroblasts.
Danes BS, Boyle PD, Traganos F, Melamed MR. Danes BS, et al. Dis Markers. 1986 Dec;4(4):271-82. Dis Markers. 1986. PMID: 2838216
The assayed cultures were derived from split thickness skin biopsies from two clinical groups: 11 normal individuals without a family history of colon cancer and 17 clinically affected individuals with autosomal dominant polyposis coli cancer syndrome (6 with colonic adeno …
The assayed cultures were derived from split thickness skin biopsies from two clinical groups: 11 normal individuals without a family histor …