دورية أكاديمية
A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
| العنوان: | A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer |
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| المؤلفون: | Tahereh Soleimani, Corrie Bourdon, Jacquelyn Davis, Thais Fortes |
| المصدر: | Clinical Case Reports, Vol 11, Iss 1, Pp n/a-n/a (2023) |
| بيانات النشر: | Wiley, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine LCC:Medicine (General) |
| مصطلحات موضوعية: | biallelic, breast cancer, checkpoint kinase 2, CHEK2, familial, genetic, Medicine, Medicine (General), R5-920 |
| الوصف: | Abstract Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to encourage a comprehensive genetic and cancer risk education for biallelic carriers of CHEK2 pathogenic variants. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2050-0904 |
| العلاقة: | https://doaj.org/toc/2050-0904Test |
| DOI: | 10.1002/ccr3.6820 |
| الوصول الحر: | https://doaj.org/article/462244d8317941b4b34af7d177fe425bTest |
| رقم الانضمام: | edsdoj.462244d8317941b4b34af7d177fe425b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20500904 |
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| DOI: | 10.1002/ccr3.6820 |