Revised text to state that as susceptibility to oligopolyposis has become apparent, clinicians, and gastrointestinal endoscopists in particular, may consider multigene (panel) testing of an ever-expanding list of genes associated with CRC.
Revised Figure 2, Lynch syndrome pedigree, to state that the pedigree shows some of the classic features of a family with Lynch syndrome, including affected family members with colon cancer or endometrial cancer, a young age at onset in some individuals, and incomplete penetrance; because the cancer risk is not 100%, individuals who have Lynch syndrome may not develop cancer, such as the mother of the female with colon cancer diagnosed at age 37 years in this pedigree.
Added text about a cost-effectiveness analysis that was performed using data from 179 consecutive endometrial cancer patients diagnosed at or before age 70 years and screened with mismatch repair (MMR) immunohistochemistry and reflex MLH1 promoter hypermethylation, among whom seven Lynch syndrome carriers were identified (cited Goverde et al. as reference 311). Also added text about the cost-effectiveness of universal tumor testing in both CRC and endometrial cancer which is largely driven by the assumption of cascade screening through which other at-risk family members will be identified, tested, and subsequently pursue their own cancer risk reduction.
Added text about a study of 242 consecutive endometrial cases that demonstrated a 4.5% prevalence of MMR-deficient cases lacking somatic MLH1 promoter hypermethylation, including four cases with germline MMR mutations, four cases with two somatic MMR alterations on next-generation sequencing, and two cases with otherwise unexplained MMR-deficiency (cited Watkins et al. as reference 320); such findings demonstrate that universal MMR tumor screening of endometrial cancers will identify individuals with underlying Lynch syndrome and a spectrum of non-Lynch syndrome cases with various forms of MMR-deficiency.
ver historia personal en: www.cerasale.com.ar [dado de baja por la Cancillería Argentina por temas políticos, propio de la censura que rige en nuestro medio]//
weblog.maimonides.edu/farmacia/archives/UM_Informe_Autoevaluacion_FyB.pdf - //
weblog.maimonides.edu/farmacia/archives/0216_Admin_FarmEcon.pdf - //
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