Publications by authors named "Carolyn G Haskins"
J Genet Couns
August 2024
Article Synopsis
- Next-generation sequencing has revealed pathogenic TP53 variants in patients without typical Li-Fraumeni syndrome (LFS) histories, which may indicate low-penetrance or mosaic LFS.
- The presence of uncertain significance TP53 variants in those with suspected LFS complicates diagnosis, requiring careful interpretation for proper medical care.
- A retrospective case review illustrates how multidisciplinary approaches and flowcharts can aid in interpreting challenging TP53 results, presenting eight cases to enhance understanding in clinical settings.
Article Synopsis
- NTHL1-associated tumor syndrome (NATS) is an autosomal recessive genetic condition linked to a higher likelihood of developing colorectal polyps and colorectal cancer, with only 46 cases reported so far.
- A study reviewed the clinical histories of six patients with NATS, finding links to increased risks of colorectal polyposis, colorectal cancer, and various other cancers including breast and endometrial cancer.
- More research is needed to better understand the cancer risks associated with NATS and to inform how to manage affected individuals effectively.
