Abstract P2-07-13: TP53 gene polymorphisms (c.[215G>C]) in breast cancer patients and predisposition to family cancers- Single center experience

Abstract

Abstract Introduction: Somatic mutations in the TP53 gene are one of the most frequent alterations in human cancers, and germline mutations are the underlying cause of Li-Fraumeni syndrome, which predisposes to a wide spectrum of early-onset cancers. The aim of this study was to evaluate the association between TP53 gene polymorphisms (c.[215G>C]) and predisposition to family cancers. Methods: We reviewed the medical records of 89 (21% TP53 gene homozygotes and 79% heterozygotes) breast cancer patients who were diagnosed and treated in COI in Gliwice. The history of family cancers was colected from medical history. Mutation profile was assessed by RFLP-PCR technique. We evaluatedthe presence ofpolymorphism TP53 (c.[215G>C]). Statistical analysis was carried out using STATISTICA 7 software. Results: Cancers in family history were detected in 72% of pts with TP53 polymorphisms and they were observed insignificantly more often in heterozygotes than in homozygotes (76% vs. 58%, p=0.153). The most frequently reported cancers were: breast cancer (33%), lymphoma (17%), colorectal cancer (9%), OUN cancer (8%), gastric cancer (8%), pancreatic cancer (7%), ovarian cancer (6%) and renal cancer (3%). In analyzed group, renal cancers in family were detected more frequently in TP53 homozygotes than in heterozygotes (16% vs. 0, p=0.008). Similarly, there was also observed tendency to the presence of colorectal cancer in TP53 homozygotes (11% vs. 0, p=0.193). Ovarian cancers and cholangiocarcinomas in family were also observed insignificantly more often in homozygotes than in heterozygotes (7% vs. 0, p=0.580) and (5% vs. 1%, p=0.383). There was no association between number of cancers in family and TP53 polymorphisms (47% vs. 43%, p=0.797). Conclusion: TP53 polymorphism (c.[215G>C]) predisposed to development renal and colorectal cancers (TP53 homozygotes) and ovarian cancer or cholangiocarcinoma (TP53 heterozygotes) in family. Citation Format: Huszno J, Grzybowska E, Nycz Bochenek M, Pamula Pilat J, Tecza K, Nowara E. TP53 gene polymorphisms (c.[215G>C]) in breast cancer patients and predisposition to family cancers- Single center experience [abstract]. In: Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2017;77(4 Suppl):Abstract nr P2-07-13.