Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population
IntroductionAPCI1307K missense mutation, welldescribed in Ashkenazi Jewish, is commonly encountered among Jordanian patients with solid tumors. In this study, we investigated the potential association between the APC gene (I1307K variant) and the risk of breast cancer among Jordanian Arab patients.M...
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Frontiers Media S.A.
2025-06-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1557341/full |
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| author | Baha Sharaf Hira Bani Hani Anas Zayed Maha Barbar Suhaib Khater Ahmad Hushki Rashid Abdel-Razeq Mohammad Titi Reem Al-Halalsheh Suleiman Mahafdah Lin Ashour Hikmat Abdel-Razeq Hikmat Abdel-Razeq |
| author_facet | Baha Sharaf Hira Bani Hani Anas Zayed Maha Barbar Suhaib Khater Ahmad Hushki Rashid Abdel-Razeq Mohammad Titi Reem Al-Halalsheh Suleiman Mahafdah Lin Ashour Hikmat Abdel-Razeq Hikmat Abdel-Razeq |
| author_sort | Baha Sharaf |
| collection | DOAJ |
| description | IntroductionAPCI1307K missense mutation, welldescribed in Ashkenazi Jewish, is commonly encountered among Jordanian patients with solid tumors. In this study, we investigated the potential association between the APC gene (I1307K variant) and the risk of breast cancer among Jordanian Arab patients.MethodsAll newly diagnosed patients with solid tumors were offered participation in a universal germline genetic screening study utilizing an investigational 84-gene panel. Patients were categorized based on whether they met or did not meet the criteria outlined in the National Comprehensive Cancer Network (NCCN) for genetic testing.ResultsAmong the screened cancer patients (n = 3,319), 136 (4.1%) had APCI1307K. Breast cancer was the most common primary tumor (n = 56, 41.2%). Among them, 41 (73.2%) had a screening colonoscopy, and 12 (29.3%) were found to have colorectal polyps, while 41.7% (5/12) had low-grade dysplasia. Of the 34 (25.0%) patients diagnosed with colorectal cancer, 23 (67.6%) exhibited tumors presenting as polyps, had concomitant polyps, or displayed background abnormalities with a polypoid nature.DiscussionThese findings suggest that Arab individuals with the APCI1307K missense mutation are at higher risk of breast and familial colorectal cancers. The APCI1307K missense variant holds promise in informing screening and cancer prevention strategies. However, additional confirmation by larger studies is needed. |
| format | Article |
| id | doaj-art-6afbdd3163bc4fd89668bbc284920b2b |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-6afbdd3163bc4fd89668bbc284920b2b2025-08-20T03:32:15ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-06-011510.3389/fonc.2025.15573411557341Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab populationBaha Sharaf0Hira Bani Hani1Anas Zayed2Maha Barbar3Suhaib Khater4Ahmad Hushki5Rashid Abdel-Razeq6Mohammad Titi7Reem Al-Halalsheh8Suleiman Mahafdah9Lin Ashour10Hikmat Abdel-Razeq11Hikmat Abdel-Razeq12Department of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Surgery, Royal Jordanian Medical Services, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanDepartment of Internal Medicine, King Hussein Cancer Center, Amman, JordanSchool of Medicine, the University of Jordan, Amman, JordanIntroductionAPCI1307K missense mutation, welldescribed in Ashkenazi Jewish, is commonly encountered among Jordanian patients with solid tumors. In this study, we investigated the potential association between the APC gene (I1307K variant) and the risk of breast cancer among Jordanian Arab patients.MethodsAll newly diagnosed patients with solid tumors were offered participation in a universal germline genetic screening study utilizing an investigational 84-gene panel. Patients were categorized based on whether they met or did not meet the criteria outlined in the National Comprehensive Cancer Network (NCCN) for genetic testing.ResultsAmong the screened cancer patients (n = 3,319), 136 (4.1%) had APCI1307K. Breast cancer was the most common primary tumor (n = 56, 41.2%). Among them, 41 (73.2%) had a screening colonoscopy, and 12 (29.3%) were found to have colorectal polyps, while 41.7% (5/12) had low-grade dysplasia. Of the 34 (25.0%) patients diagnosed with colorectal cancer, 23 (67.6%) exhibited tumors presenting as polyps, had concomitant polyps, or displayed background abnormalities with a polypoid nature.DiscussionThese findings suggest that Arab individuals with the APCI1307K missense mutation are at higher risk of breast and familial colorectal cancers. The APCI1307K missense variant holds promise in informing screening and cancer prevention strategies. However, additional confirmation by larger studies is needed.https://www.frontiersin.org/articles/10.3389/fonc.2025.1557341/fullAPCI1307Kbreast cancercolon cancerAPCgermline genetic testinghereditary cancer |
| spellingShingle | Baha Sharaf Hira Bani Hani Anas Zayed Maha Barbar Suhaib Khater Ahmad Hushki Rashid Abdel-Razeq Mohammad Titi Reem Al-Halalsheh Suleiman Mahafdah Lin Ashour Hikmat Abdel-Razeq Hikmat Abdel-Razeq Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population Frontiers in Oncology APCI1307K breast cancer colon cancer APC germline genetic testing hereditary cancer |
| title | Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population |
| title_full | Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population |
| title_fullStr | Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population |
| title_full_unstemmed | Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population |
| title_short | Investigating the link between APCI1307K mutation and breast cancer in a Jordanian Arab population |
| title_sort | investigating the link between apci1307k mutation and breast cancer in a jordanian arab population |
| topic | APCI1307K breast cancer colon cancer APC germline genetic testing hereditary cancer |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1557341/full |
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