Publications by authors named "Nicola Kazia Poplawski"
Clinical, histological and receptor profiles of invasive breast cancer and ductal carcinoma in situ in females with germline pathogenic variants in PTEN and implications for germline testing.
Gelareh Farshid
,
S Jan Ibbetson
,
Malcolm Pradhan
,
Lachlan Henry
,
Nicholas David Manton
,
Nicola Kazia Poplawski
Pathology
February 2025
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.
Pathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.
Gelareh Farshid
,
S Jan Ibbetson
,
Malcolm Pradhan
,
Nicholas David Manton
,
Andrew Dubowsky
,
Nicola Kazia Poplawski
Pathology
February 2025
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.