التفاصيل البيبلوغرافية
| العنوان: |
A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer. |
| المؤلفون: |
Soleimani, Tahereh1 (AUTHOR) th.soleimani@gmail.com, Bourdon, Corrie2 (AUTHOR), Davis, Jacquelyn3 (AUTHOR), Fortes, Thais2 (AUTHOR) |
| المصدر: |
Clinical Case Reports. Jan2023, Vol. 11 Issue 1, p1-5. 5p. |
| مصطلحات موضوعية: |
*CHECKPOINT kinase 2, *GENETIC variation, *BREAST cancer |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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