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Clinical and molecular assessment of patients with sarcomas and suspected for Lynch Syndrome

Grant number: 19/10085-0
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): September 01, 2019
Effective date (End): December 31, 2019
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Giovana Tardin Torrezan
Grantee:Bianca Naomi Niitsuma
Host Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil


Recently, a study of our group evaluated the occurrence of sarcomas in a suspected Lynch Syndrome (LS) cohort and identified three patients in whom the tumor etiology was associated with this syndrome. In this study, we identified another eleven patients as having sarcomas and colorectal tumors in the same individual or in individuals from the same family. Thus, the present study aims to broaden the investigation of the relationship between sarcomas and Lynch Syndrome. To do this, we performed the clinical data collection of a group of 14 patients, already identified as having sarcoma and colorectal cancer in the same individual, or in individuals from the same family. Additionally, we conducted a broad survey in the institutional database to broaden the search of our initial survey, we searched for patients with sarcoma and other neoplasms, besides colorectal cancer (CRC), related to LS, such as endometrial cancer, renal pelvis cancer, ureter cancer, sebaceous carcinoma and sebaceoma, being found another 11 patients, totaling 25 cases that fit this research. The purpose of this study is to clinically and molecularly characterize the patients of this cohort. For this, analysis of the expression genes of repair and microsatellite instability in the tumor materials of these patients will be performed, and analysis of germline variants in leukocyte or saliva DNA as well. We hope to be able to contribute with evidence to confirm that sarcomas represent a rare clinical manifestation in patients with LS and to demonstrate that analyzes of biological characteristics of the tumor may be useful for the definition of the etiology of these tumors.

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