A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-01-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6820 |
| _version_ | 1811162489972326400 |
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| author | Tahereh Soleimani Corrie Bourdon Jacquelyn Davis Thais Fortes |
| author_facet | Tahereh Soleimani Corrie Bourdon Jacquelyn Davis Thais Fortes |
| author_sort | Tahereh Soleimani |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T06:30:31Z |
| format | Article |
| id | doaj.art-462244d8317941b4b34af7d177fe425b |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-10T06:30:31Z |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-462244d8317941b4b34af7d177fe425b2023-03-01T07:50:57ZengWileyClinical Case Reports2050-09042023-01-01111n/an/a10.1002/ccr3.6820A case report of biallelic CHEK2 heterozygous variant presenting with breast cancerTahereh Soleimani0Corrie Bourdon1Jacquelyn Davis2Thais Fortes3MSU/Sparrow Surgery Lansing Michigan USASparrow Health System Lansing Michigan USADepartment of Obstetrics and Gynecology Sparrow Hospital Lansing Michigan USASparrow Health System Lansing Michigan USAAbstract 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.https://doi.org/10.1002/ccr3.6820biallelicbreast cancercheckpoint kinase 2CHEK2familialgenetic |
| spellingShingle | Tahereh Soleimani Corrie Bourdon Jacquelyn Davis Thais Fortes A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer Clinical Case Reports biallelic breast cancer checkpoint kinase 2 CHEK2 familial genetic |
| title | A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer |
| title_full | A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer |
| title_fullStr | A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer |
| title_full_unstemmed | A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer |
| title_short | A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer |
| title_sort | case report of biallelic chek2 heterozygous variant presenting with breast cancer |
| topic | biallelic breast cancer checkpoint kinase 2 CHEK2 familial genetic |
| url | https://doi.org/10.1002/ccr3.6820 |
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