ORIGINAL RESEARCH article

Front. Oncol.

Sec. Breast Cancer

Volume 15 - 2025 | doi: 10.3389/fonc.2025.1557341

This article is part of the Research TopicMolecular and Functional Profiling in Breast Cancer: Implications for Hereditary and Sporadic CasesView all 4 articles

Investigating the Link between APC I1307K Mutation and Breast Cancer in Jordanian Arab Population

Provisionally accepted
Baha SharafBaha Sharaf1Hira Bani HaniHira Bani Hani1Anas ZayedAnas Zayed1Maha BarbarMaha Barbar1Suhaib KhaterSuhaib Khater1Ahmad HushkiAhmad Hushki1Rashid Abdel-RazeqRashid Abdel-Razeq1Mohammad TitiMohammad Titi1Reem Al-HalalshehReem Al-Halalsheh1Suleiman MahafdahSuleiman Mahafdah2Lin AshourLin Ashour1Hikmat Abdel-RazeqHikmat Abdel-Razeq1,3*
  • 1King Hussein Cancer Center, Amman, Jordan
  • 2Jordanian Royal Medical Services, Amman, Amman, Jordan
  • 3The University of Jordan, Aljubeiha, Amman, Jordan

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The APCI1307K missense mutation, well described in Ashkenazi Jewish, is commonly encountered among Jordanian patients with solid tumors. In this study, we investigate the potential association of the APC gene (I1307K variant) and breast cancer risk among Jordanian Arab patients. All newly diagnosed patients with solid tumors were offered to participate 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. Among the screened cancer patients (n=3319), 136 (4.1%) had APCI1307K. Breast cancer was the most common primary tumor (n=56, 41.2%); 41 (73.2%) of them had a screening colonoscopy, 12 (29.3%) were found to have colorectal polyps, 41.7% (5/12) were 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. Our findings suggest that Arab individuals with the APCI1307K missense mutation are at higher risk for breast and familial colorectal cancers. APCI1307K missense variant holds promise in informing screening and cancer prevention strategies. However, additional confirmation by larger studies is needed.The APCI1307K missense mutation, well described in Ashkenazi Jewish, is commonly encountered among Jordanian patients with solid tumors. In this study, we investigate the potential association of the APC gene (I1307K variant) and breast cancer risk among Jordanian Arab patients.

Keywords: APCI1307K, breast cancer, Colon Cancer, APC, Germline genetic testing, Hereditary cancer

Received: 08 Jan 2025; Accepted: 06 Jun 2025.

Copyright: © 2025 Sharaf, Bani Hani, Zayed, Barbar, Khater, Hushki, Abdel-Razeq, Titi, Al-Halalsheh, Mahafdah, Ashour and Abdel-Razeq. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Hikmat Abdel-Razeq, King Hussein Cancer Center, Amman, Jordan

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Supplementary Material