Translational Medical Research Commons^™

Breast Cancer In Pms2 Related Lynch Syndrome: Evidence Of A Possible Association?, Ujjwal Karki, Tara Rangarajan, Dana Zakalik

Conference Presentation Abstracts

Background: Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by pathogenic variants (PVs) in mismatch repair genes, MLH1, MSH2, MSH6, and PMS2. LS is associated with increased risk of colorectal, and endometrial cancers but breast cancer risk is uncertain, with some studies suggesting MSH6 and PMS2 PVs may have a higher risk for breast cancer. Our study outlines the incidence and clinical characteristics of breast cancer in PMS2-related LS identified at a large academic center. Methods: Patients with PMS2 PVs identified between July 2009 and May 2023 were selected from a database at the Nancy and James Grosfeld …

Characteristics Of Breast Cancer In Carriers Of Pathogenic Variant In Atm In A Large Academic Health Center, Ujjwal Karki, Tara Rangarajan, Dana Zakalik

Conference Presentation Abstracts

Background: Pathogenic variants (PVs) in ATM are associated with an increased risk of breast, pancreas, and other cancers. The clinical and pathological characteristics of ATM-associated breast cancers have not been well defined. Methods: Patients who underwent multigene panel testing between December 2012 and May 2023 and were identified to harbor ATM PVs were included in the study. We analyzed demographics, germline findings, histopathology, genomic recurrence score, and management of ATM PV carriers with breast cancer. Results: A total of 222 individuals were identified to have PVs in ATM, of whom 184 (83%) were female. The majority were Caucasian (n = …

Tox3 Rs3803662 Polymorphism Is Associated With Breast Cancer Protection In Northeastern Mexican Woman, Orlando D. Solis-Coronado, Hazyadee F. Rodríguez-Gutiérrez, Monica P. Villarreal-Vela, Ricardo M. Cerda-Flores, Juan F. González-Guerrero, Oscar Vidal-Gutiérrez, Diana C. Pérez-Ibave, Maria Lourdes Garza-Rodríguez

Research Symposium

Introduction: Low penetrance genes are involved in breast cancer (BC) and confer risk for the development of this neoplasia. Different single nucleotide polymorphisms (SNPs) associated with BC have been identified, such as rs3803662 (TOX3), which is related to estrogen receptors in European and African-American women. The contribution of this variant in the Mexican population is unknown. The objective of this study was to evaluate, through a case-control design, the association of the SNP rs3803662 (TOX3), with the risk of BC in women from northeastern Mexico.

Methods: We included 434 cases and 228 controls. Genotyping was carried out using RFLPs. The …