1. XRCC1Arg194Trp gene polymorphism and risk of lymphoma in a Romanian population First author: Anda Ştefan Co-authors: Cristina Radu George Crauciuc Coordinators: Claudia Bănescu, MD Ioan Macarie, MD

2. Introduction  Lymphoma is a type of cancer that begins in the immune system cells called lymphocytes;  X-ray repair cross- complementing group 1 (XRCC1) is a critical enzyme in the DNA repair pathway that is principally involved in base excision repair and single strand repair.

3. Objective  Main purpose: –to establish if the XRCC1Arg194Trp gene polymorphism is related to the high incidence of lymphomas.  Specific purposes: –different correlations between gene polymorphism and malignant lymphomas; –correlations between lymphomas and some parameters; –using the results as a starting point for future studies.

4. Material and method  Retrospective, analytical and observational study;  94 patients in the evidences of the Hematology Department of Tirgu-Mures County Hospital which were first diagnosed between 1995-2013;  Control group of 113 patients;  Parameters analyzed and compared: type of lymphoma, age, gender, genotype, performance status and LDH;  The genotypes were determined through a PCR- RFLP method, using the corresponding primers and digestive enzymes;  Softwares used: Graph Pad, Microsoft Excel.

5. Results Gender Distribution

6. Results Age Distribution

7. Results Genotype

8. MLControl AA67107 AT235 p<0.0001OR=0.1361 95 CI 0.049 to 0.375 MLControl AA2636 AT102 p=0.0113OR=0.1444 95 CI 0.029 to 0.715 MLControl AA4153 AT132 p=0.002OR=0.119 95 CI 0.025 to 0.557 Total number of patients Males Females

9. Results Types of Lymphomas

10. B-cell T-cell

11. Results Performance Status (ECOG)

12. Results Serum Lactate Dehydrogenase (LDH)

13. Discussions  Malignant lymphomas have a positive prognostic if they are diagnosed in early stages;  From our knowledge, this is one of the few studies realized in our country about the Arg194Trp gene;  Further studies are required.

14. Discussions Other studies revealed similar findings:  XRCC1 194 Trp variants were associated with an increased risk for diffuse large B-cell lymphomas.[1]  XRCC1 194Trp allele was associated with a slightly increased risk of non-Hodgkin lymphomas. [2]  Variants in genes that play an important role in several DNA repair pathways were associated with altered risk of non-Hodgkin lymphomas, especially for diffuse large B-cell lymphomas. [3]

15. Conclusions  High correlation between XRCC1Arg194Trp polymorphism and lymphomas;  More common in females;  Mostly in the 5 th and 7 th decade;  More often B-cell lymphomas (59%), followed by lymphomas primary localized in other organs(15%).

16. Bibliography  [1] Suk Kima, Ho-Jin Shinf: “DNA repair gene XRCC1 polymorphisms and haplotypes in diffuse large B-cell lymphoma in a Korean population” Cancer Genetics and Cytogenetics 196 (2010) 31-37;  [2] Hill DA, Wang SS: “Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes ” Blood 2006;108:3161-7;  [3] Min Shen, Tongzhang Zheng: “Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut ” Hum Genet (2006) 119: 659–668.