Results from London Regional Clinical Genetics services over a 5-year period on germline TP53 testing in women diagnosed with breast cancer at <30 years

• Published in: Journal of medical genetics Vol. 59; no. 6; pp. 554 - 558
• Main Authors: Garrett, Alice, Talukdar, Sabrina, Izatt, Louise, Brady, Angela F, Whyte, Sinead, Josephs, Katherine S, Shanmugasundaram, Monisha, Guillemot, Li Shan, Vakili, Dara, Ey, Shevaun, Ahmed, Munaza
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.06.2022; BMJ Publishing Group LTD
• Subjects: Age; Brain cancer; Breast cancer; Cancer genetics; ErbB-2 protein; Family medical history; Genetic screening; genetic testing; Genetics; germ-line mutation; Laboratories; medical; Medical diagnosis; p53 Protein; Patients; Radiation; Sarcoma; sequence analysis; Surveillance; Tumors; United Kingdom > UK; medical; sequence analysis; genetics; germ-line mutation; genetic testing

BackgroundThe most common cancer diagnosed in germline TP53 pathogenic variant (PV) carriers is premenopausal breast cancer. An increased rate of breast tumour HER2 positivity has been reported in this group. Screening for breast/other cancers is recommended in PV carriers.Objectives1. To assess the...