NDLI: Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil

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Familial Cancer : Volume 9, Issue 1, Supplement,April 2010

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Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil

Content Provider	Springer Nature Link
Author	Cossio, Silvia Liliana Koehler Santos, Patricia Pessini, Suzana Arenhart Mónego, Heleuza Edelweiss, Maria Isabel Meurer, Luise Errami, Abdellatif Coffa, Jordy Bock, Hugo Saraiva Pereira, Maria Luiza Ashton Prolla, Patricia Prolla, João Carlos
Copyright Year	2009
Abstract	Lynch syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in one of the mismatch repair (MMR) genes: MLH1, MSH2, MSH6 and PMS2. Clinically, Lynch syndrome is characterized by early onset (45 years) of colorectal cancer (CRC), as well as extra-colonic cancer. Male and female carriers of Lynch syndrome-associated mutations have different lifetime risks for CRC and in women endometrial cancer (EC) may be the most common tumor. Whenever Amsterdam criteria are not fulfilled, the currently recommended laboratory screening strategies involve microsatellite instability testing and immunohistochemistry staining of the tumor for the major MMR proteins. The aim of this study was to estimate the frequency of MMR deficiencies in women diagnosed with EC who are at-risk for Lynch syndrome. Thirty women diagnosed with EC under the age of 50 years and/or women with EC and a first degree relative diagnosed with a Lynch syndrome-associated tumor were included. To assess MMR deficiencies four methods were used: multiplex PCR, Single Strand Conformation Polymorphism, Immunohistochemistry and Methylation Specific–Multiplex Ligation-dependent Probe Amplification. Twelve (40%) patients with EC fulfilling one of the inclusion criteria had results indicative of MMR deficiency. The identification of 5 women with clear evidence of MMR deficiency and absence of either Amsterdam or Bethesda criteria among 10 diagnosed with EC under the age of 50 years reinforces previous suggestions by some authors that these women should be considered at risk and always screened for Lynch syndrome after informed consent.
Starting Page	131
Ending Page	139
Page Count	9
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	9
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2009-10-11
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Endometrial cancer Immunohistochemistry Lynch syndrome Methylation analysis Microsatellite instability Mismatch repair Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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