Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability
Abstract A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompas...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2024-03-01
|
| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00270-3 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832594874655834112 |
|---|---|
| author | Hiroki Tanabe Masami Ijiri Kenji Takahashi Honoka Sasagawa Tomomi Kamanaka Shohei Kuroda Hiroki Sato Takeo Sarashina Yusuke Mizukami Yoshio Makita Toshikatsu Okumura |
| author_facet | Hiroki Tanabe Masami Ijiri Kenji Takahashi Honoka Sasagawa Tomomi Kamanaka Shohei Kuroda Hiroki Sato Takeo Sarashina Yusuke Mizukami Yoshio Makita Toshikatsu Okumura |
| author_sort | Hiroki Tanabe |
| collection | DOAJ |
| description | Abstract A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. The patient and her son exhibited mild intellectual disability without developmental delay. This case highlights the need for further exploration of the characteristics associated with whole APC deletions. aCGH is a valuable tool for studying FAP and provides a detailed analysis of large deletions. |
| format | Article |
| id | doaj-art-012b425413fc457087222a2d629e6895 |
| 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-012b425413fc457087222a2d629e68952025-01-19T12:15:41ZengNature Publishing GroupHuman Genome Variation2054-345X2024-03-011111410.1038/s41439-024-00270-3Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disabilityHiroki Tanabe0Masami Ijiri1Kenji Takahashi2Honoka Sasagawa3Tomomi Kamanaka4Shohei Kuroda5Hiroki Sato6Takeo Sarashina7Yusuke Mizukami8Yoshio Makita9Toshikatsu Okumura10Oncology Center, Asahikawa Medical University HospitalDepartment of Gastroenterology, Japanese Red Cross Asahikawa HospitalGenetic Oncology Department, Asahikawa Medical University HospitalDepartment of Genetic Counseling, Asahikawa Medical University HospitalOncology Center, Asahikawa Medical University HospitalDepartment of Gastroenterology, Japanese Red Cross Asahikawa HospitalDepartment of Internal Medicine, Asahikawa Medical UniversityOncology Center, Asahikawa Medical University HospitalGenetic Oncology Department, Asahikawa Medical University HospitalDepartment of Genetic Counseling, Asahikawa Medical University HospitalDepartment of Internal Medicine, Asahikawa Medical UniversityAbstract A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis. Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. The patient and her son exhibited mild intellectual disability without developmental delay. This case highlights the need for further exploration of the characteristics associated with whole APC deletions. aCGH is a valuable tool for studying FAP and provides a detailed analysis of large deletions.https://doi.org/10.1038/s41439-024-00270-3 |
| spellingShingle | Hiroki Tanabe Masami Ijiri Kenji Takahashi Honoka Sasagawa Tomomi Kamanaka Shohei Kuroda Hiroki Sato Takeo Sarashina Yusuke Mizukami Yoshio Makita Toshikatsu Okumura Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability Human Genome Variation |
| title | Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability |
| title_full | Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability |
| title_fullStr | Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability |
| title_full_unstemmed | Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability |
| title_short | Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability |
| title_sort | genomic insights into familial adenomatous polyposis unraveling a rare case with whole apc gene deletion and intellectual disability |
| url | https://doi.org/10.1038/s41439-024-00270-3 |
| work_keys_str_mv | AT hirokitanabe genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT masamiijiri genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT kenjitakahashi genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT honokasasagawa genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT tomomikamanaka genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT shoheikuroda genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT hirokisato genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT takeosarashina genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT yusukemizukami genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT yoshiomakita genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability AT toshikatsuokumura genomicinsightsintofamilialadenomatouspolyposisunravelingararecasewithwholeapcgenedeletionandintellectualdisability |