دورية أكاديمية
Germline tp53 testing in breast cancers: Why, when and how?
| العنوان: | Germline tp53 testing in breast cancers: Why, when and how? |
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| المؤلفون: | Evans, DG, Woodward, ER, Bajalica-Lagercrantz, S, Oliveira, C, Frebourg, T |
| المساهمون: | Instituto de Investigação e Inovação em Saúde |
| بيانات النشر: | MDPI |
| سنة النشر: | 2020 |
| المجموعة: | Repositório Aberto da Universidade do Porto |
| مصطلحات موضوعية: | Breast cancer, Gene panels, Heritable TP53-related cancer syndrome, Interpretation, Li-Fraumeni syndrome, TP53, Variant |
| الوصف: | Germline TP53 variants represent a main genetic cause of breast cancers before 31 years of age. Development of cancer multi-gene panels has resulted in an exponential increase of germline TP53 testing in breast cancer patients. Interpretation of TP53 variants, which are mostly missense, is complex and requires excluding clonal haematopoiesis and circulating tumour DNA. In breast cancer patients harbouring germline disease-causing TP53 variants, radiotherapy contributing to the development of subsequent tumours should be, if possible, avoided and, within families, annual follow-up including whole-body MRI should be offered to carriers. We consider that, in breast cancer patients, germline TP53 testing should be performed before treatment and offered systematically only to patients with: (i) invasive breast carcinoma or ductal carcinoma in situ (DCIS) before 31; or (ii) bilateral or multifocal or HER2+ invasive breast carcinoma/DCIS or phyllode tumour before 36; or (iii) invasive breast carcinoma before 46 and another TP53 core tumour (breast cancer, soft-tissue sarcoma, osteosarcoma, central nervous system tumour, adrenocortical carcinoma); or (iv) invasive breast carcinoma before 46 and one first-or second-degree relative with a TP53 core tumour before 56. In contrast, women presenting with breast cancer after 46, without suggestive personal or familial history, should not be tested for TP53. ; D.G.E. and E.R.W. are supported by the Manchester NIHR Biomedical Research Centre (IS-BRC-1215-20007). |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2072-6694 |
| العلاقة: | Cancers, vol.12(12):3762; https://www.mdpi.com/2072-6694/12/12/3762Test; https://hdl.handle.net/10216/145249Test |
| DOI: | 10.3390/cancers12123762 |
| الإتاحة: | https://doi.org/10.3390/cancers12123762Test https://hdl.handle.net/10216/145249Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.3BB7AFB3 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 20726694 |
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| DOI: | 10.3390/cancers12123762 |