Publications by authors named "N Manton"
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) is a hereditary cancer syndrome mainly caused by PTEN gene variants, significantly increasing breast cancer risk for female carriers (up to 80%).
- A study tracked breast biopsies of 14 females with these gene variants over 28 years, finding high rates of breast cancer diagnoses (85.7%) with an average initial diagnosis age of 41.6.
- The research highlights that breast cancer in PHTS does not have distinctive features, emphasizing the need for healthcare professionals to familiarize themselves with these cases for better early recognition and management.
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) is a rare genetic condition linked to mutations in the PTEN gene, causing increased cancer risks and benign lesions across various organs.
- A study conducted over 28 years examined the biopsy histories of 12 women with PTEN mutations, revealing that most presented with benign mucocutaneous lesions and significant breast cancer development, with only one having a known family history of Cowden syndrome.
- The findings suggest that analyzing past biopsies can help identify underlying cancer susceptibility syndromes like PHTS, leading to better clinical and genetic counseling for affected individuals.
Article Synopsis
- Pregnancy loss and perinatal death deeply affect families, and a study evaluated 'genomic autopsy' along with standard autopsy for 200 affected families, achieving definitive or candidate genetic diagnoses in 105 of them.
- The findings revealed new types of genetic disorders, with the inheritance patterns showing that 42% of diagnosed cases could lead to risks in future pregnancies.
- At least 10 families utilized these genetic diagnoses for future pregnancy planning, highlighting the significance of genomic investigations in providing timely information and support for families experiencing pregnancy loss.
Pediatric Hematochezia Caused by Intestinal Ganglioneuromatous Polyposis.
J Pediatr Gastroenterol Nutr
October 2022