CorrespondenceA Perspective on Bi-allelic MUTYH Mutations in Patients With Hyperplastic Polyposis Syndrome
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Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing
2018, Clinical Colorectal CancerCitation Excerpt :A proportion of individuals with SPS were found to carry a mutation in rare polyposis-associated genes including SMAD4,144 BMPR1A,145 PTEN,52 GREM1,138 and MUTYH,146 but a subsequent case series of 65 patients did not support that these genes are altered in SPS.147 To date, the genetic basis of SPS remains to be determined, therefore, the role of multigene panel testing in SPS is limited in the clinical setting, except in the presence of multiple (>20) adenomas for which MUTYH gene testing is indicated.148 In the search for the genetic etiology of SPS, Yan et al identified a family with a germline mutation in ring finger protein 43 (RNF43) c.953-1G>A, c.953_954delAG p.Glu318fsGlyfs318* that segregated with the SPS phenotype.149
Management of Patients with Hereditary Colorectal Cancer Syndromes
2015, GE Portuguese Journal of GastroenterologyCitation Excerpt :In contrast to FAP and Lynch syndrome, no genetic abnormality has been consistently described in SPS, but inheritance is seen in a small percentage of families.68 Although routine germline testing is not routinely recommended for SPS patients, MUTYH testing may be considered if concurrent adenomas and/or a family history of adenomas are present.69 SPS is generally described as the presence of multiple, large and/or proximal hyperplastic/serrated polyps.70
Hyperplastic polyposis syndrome
2010, Gastroenterologia y Hepatologia ContinuadaGermline variant testing in serrated polyposis syndrome
2022, Journal of Gastroenterology and Hepatology (Australia)
Conflicts of interest This author discloses the following: Joanne Young is a Cancer Council Queensland Senior Research Fellow. Daniel Buchanan discloses no conflicts.
Funding This work was supported by a grant from the National Cancer Institute 1R01CA123010.