Publications by authors named "B G Katona"
Multigene panel testing has allowed for the detection of a growing number of inherited pathogenic/likely pathogenic variants in people at high risk of cancer, including endometrial cancer (EC). Hereditary syndromes associated with EC include Lynch syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome. This manuscript provides the latest recommendations from the NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric on the screening and management of EC in patients at high risk for these syndromes, as well as the advantages and limitations of multigene panel testing.
View Article and Find Full Text PDFBackground: The expected and optimal adenoma detection rate (ADR) is not well characterized in Lynch syndrome (LS). The aim of this study is to determine the ADR, the overall colorectal neoplasia detection rate (CNDR), proximal serrated detection rate (PSDR), and CRC detection rate (CRCDR) in an LS cohort.
Methods: A retrospective study was performed of individuals with LS who were evaluated at a single tertiary care center from May 2001 to September 2023 ( = 542).
This study investigates the frequency of a clinically reported variant in , NM_000535.7:c.2523G>A p.
View Article and Find Full Text PDFBackground: The lifetime risk of pancreatic cancer in women with a germline mutation in BRCA1 and BRCA2 is not well established. In an international prospective cohort of female carriers of BRCA1 and BRCA2 mutations, the cumulative incidence of pancreatic cancer from age 40 until 80 years was estimated.
Methods: A total of 8295 women with a BRCA1 or BRCA2 mutation were followed for new cases of pancreatic cancer.
Article Synopsis
- Menin, a protein encoded by a specific gene, acts as a nuclear scaffold that regulates gene expression by interacting with chromatin modifiers and transcription factors.
- Its role in cancer is complex, as it can function as both a tumor suppressor in conditions like MEN1 syndrome and cholangiocarcinoma, and as a tumor promoter in various other cancers like leukemia and colorectal cancer, depending on the type and context of the tumor.
- The review focuses on the diverse roles of menin across different cancer types, emphasizing the need for further research to understand its mechanisms and therapeutic potential.