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Germline TP53 Testing in Breast Cancers: Why, When and How?
Ist Teil von
Cancers, 2020-12, Vol.12 (12), p.3762
Ort / Verlag
Switzerland: MDPI AG
Erscheinungsjahr
2020
Quelle
EZB Electronic Journals Library
Beschreibungen/Notizen
Germline
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
testing in breast cancer patients. Interpretation of
variants, which are mostly missense, is complex and requires excluding clonal haematopoiesis and circulating tumour DNA. In breast cancer patients harbouring germline disease-causing
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
testing should be performed before treatment and offered systematically only to patients with: (i) invasive breast carcinoma or
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
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
core tumour before 56. In contrast, women presenting with breast cancer after 46, without suggestive personal or familial history, should not be tested for