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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease h syndrome
Comorbidity C0476089|endometrial cancer
Sentences 25
PubMedID- 25371881 This is the first case report of an endometrial cancer patient with a lynch syndrome germline mutation without family history in korea.
PubMedID- 23842794 Chemoprevention of endometrial cancer in lynch syndrome: a step forward.
PubMedID- 26219573 Screening for lynch syndrome among patients with newly diagnosed endometrial cancer: a comprehensive review.
PubMedID- 20396392 This mutation rate is lower than that of lynch syndrome with endometrial cancer patients, of whom 15% show mmr mutations [62].
PubMedID- 24056992 Identified failure of dna amplification in only 0.6% of the microsatellites analysed; in no case did the failure to amplify affect the designation of the tumour as mss, msi-h or msi-l.69 a specific issue for msi testing in endometrial tumours arises from the higher proportion of msh6 mutations among endometrial cancer patients with lynch syndrome (see below) and the fact that msh6-deficient tumours frequently show an msi-l and occasionally an mss phenotype.2,70 therefore an appropriate proficiency test should include performance in identifying the msi-l phenotype in endometrial tumours.
PubMedID- 23888949 Utility of mlh1 methylation analysis in the clinical evaluation of lynch syndrome in women with endometrial cancer.
PubMedID- 23769810 The additional value of endometrial sampling in the early detection of endometrial cancer in women with lynch syndrome.
PubMedID- 26151267 Female hormonal factors and the risk of endometrial cancer in lynch syndrome.
PubMedID- 24933100 Objective: determine factors impacting the uptake of genetic counseling and results of genetic testing following universal tumor testing for lynch syndrome in patients with endometrial cancer.
PubMedID- 23385444 Risks of colorectal and other cancers after endometrial cancer for women with lynch syndrome.
PubMedID- 22306203 Prospective evaluation of molecular screening for lynch syndrome in patients with endometrial cancer
PubMedID- 25529831 Performance characteristics of a brief family history questionnaire to screen for lynch syndrome in women with newly diagnosed endometrial cancer.
PubMedID- 25562140 It is estimated that about 2%-5% of all diagnosed colorectal and endometrial cancers are due to lynch syndrome [1].
PubMedID- 23760948 Molecular pathogenesis of endometrial cancers in patients with lynch syndrome.
PubMedID- 26327831 Both ovarian and endometrial cancers are typical of lynch syndrome – a disease that results from a defect in dna mismatch repair genes (mmr), which leads to the microsatellite instability [13].
PubMedID- 22940821 The prognosis of endometrial cancer in patients with lynch syndrome has not been established, the findings for colorectal cancer, however, suggest that the prognosis of lus cancer may be good for patients with lynch syndrome.
PubMedID- 23639481 Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with lynch syndrome.
PubMedID- 24096698 endometrial cancer is part of lynch syndrome, which is attributable to the inheritance of rare, highly penetrant mutations in dna mismatch repair genes (nicolaides et al.
PubMedID- 24168969 Re: risks of colorectal and other cancers after endometrial cancer for women with lynch syndrome.
PubMedID- 25930067 The role of expanded testing for lynch syndrome in women with endometrial cancer.
PubMedID- 21537049 We estimated the costs and benefits of different testing criteria to identify lynch syndrome in women with endometrial cancer.
PubMedID- 22187554 There is a higher incidence of nonendometrioid endometrial cancer in patients with lynch syndrome (43%) than in those with sporadic uterine tumors, despite younger mean age at diagnosis.
PubMedID- 23225370 Application of research methods show improved identification and may facilitate appropriate referrals of endometrial cancer patients with possible lynch syndrome.
PubMedID- 24244552 Prevalence of lynch syndrome among patients with newly diagnosed endometrial cancers.
PubMedID- 26162329 Here, with the use of lynch syndrome in endometrial cancer as a model, some of the applications and intricacies of next-generation sequencing testing for hereditary cancer syndromes are reviewed.

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