BARD1 deletion in a patient with suspected hereditary colorectal cancer
Abstract Deleterious germline variants in the BRCA1-associated ring domain (BARD1) gene moderately elevate breast cancer risk; however, their potential association with other neoplasms remains unclear. Here, we present the case of a 43-year-old female patient diagnosed with sigmoid colon adenocarcin...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-03-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00267-y |
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| _version_ | 1832594876423733248 |
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| author | Nobue Takaiso Issei Imoto Akiyo Yoshimura Akira Ouchi Koji Komori Hiroji Iwata Yasuhiro Shimizu |
| author_facet | Nobue Takaiso Issei Imoto Akiyo Yoshimura Akira Ouchi Koji Komori Hiroji Iwata Yasuhiro Shimizu |
| author_sort | Nobue Takaiso |
| collection | DOAJ |
| description | Abstract Deleterious germline variants in the BRCA1-associated ring domain (BARD1) gene moderately elevate breast cancer risk; however, their potential association with other neoplasms remains unclear. Here, we present the case of a 43-year-old female patient diagnosed with sigmoid colon adenocarcinoma whose maternal family members met the Amsterdam Criteria II for Lynch syndrome. Comprehensive multigene panel testing revealed a heterozygous BARD1 exon 3 deletion. |
| format | Article |
| id | doaj-art-0271519ac6a14e3db175fe4a94c023d8 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-03-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-0271519ac6a14e3db175fe4a94c023d82025-01-19T12:15:31ZengNature Publishing GroupHuman Genome Variation2054-345X2024-03-011111410.1038/s41439-024-00267-yBARD1 deletion in a patient with suspected hereditary colorectal cancerNobue Takaiso0Issei Imoto1Akiyo Yoshimura2Akira Ouchi3Koji Komori4Hiroji Iwata5Yasuhiro Shimizu6Risk Assessment Unit, Aichi Cancer Center HospitalRisk Assessment Unit, Aichi Cancer Center HospitalRisk Assessment Unit, Aichi Cancer Center HospitalDepartment of Gastroenterological Surgery, Aichi Cancer Center HospitalDepartment of Gastroenterological Surgery, Aichi Cancer Center HospitalDepartment of Breast Oncology, Aichi Cancer Center HospitalDepartment of Gastroenterological Surgery, Aichi Cancer Center HospitalAbstract Deleterious germline variants in the BRCA1-associated ring domain (BARD1) gene moderately elevate breast cancer risk; however, their potential association with other neoplasms remains unclear. Here, we present the case of a 43-year-old female patient diagnosed with sigmoid colon adenocarcinoma whose maternal family members met the Amsterdam Criteria II for Lynch syndrome. Comprehensive multigene panel testing revealed a heterozygous BARD1 exon 3 deletion.https://doi.org/10.1038/s41439-024-00267-y |
| spellingShingle | Nobue Takaiso Issei Imoto Akiyo Yoshimura Akira Ouchi Koji Komori Hiroji Iwata Yasuhiro Shimizu BARD1 deletion in a patient with suspected hereditary colorectal cancer Human Genome Variation |
| title | BARD1 deletion in a patient with suspected hereditary colorectal cancer |
| title_full | BARD1 deletion in a patient with suspected hereditary colorectal cancer |
| title_fullStr | BARD1 deletion in a patient with suspected hereditary colorectal cancer |
| title_full_unstemmed | BARD1 deletion in a patient with suspected hereditary colorectal cancer |
| title_short | BARD1 deletion in a patient with suspected hereditary colorectal cancer |
| title_sort | bard1 deletion in a patient with suspected hereditary colorectal cancer |
| url | https://doi.org/10.1038/s41439-024-00267-y |
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