{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T03:35:01Z","timestamp":1767843301994,"version":"3.49.0"},"reference-count":83,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T00:00:00Z","timestamp":1684195200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000646","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22H04979"],"award-info":[{"award-number":["22H04979"]}],"id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000646","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["1-11-1"],"award-info":[{"award-number":["1-11-1"]}],"id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000646","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["2019T009"],"award-info":[{"award-number":["2019T009"]}],"id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004298","name":"SECOM Science and Technology Foundation","doi-asserted-by":"publisher","award":["22H04979"],"award-info":[{"award-number":["22H04979"]}],"id":[{"id":"10.13039\/501100004298","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004298","name":"SECOM Science and Technology Foundation","doi-asserted-by":"publisher","award":["1-11-1"],"award-info":[{"award-number":["1-11-1"]}],"id":[{"id":"10.13039\/501100004298","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004298","name":"SECOM Science and Technology Foundation","doi-asserted-by":"publisher","award":["2019T009"],"award-info":[{"award-number":["2019T009"]}],"id":[{"id":"10.13039\/501100004298","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004330","name":"Smoking Research Foundation","doi-asserted-by":"publisher","award":["22H04979"],"award-info":[{"award-number":["22H04979"]}],"id":[{"id":"10.13039\/501100004330","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004330","name":"Smoking Research Foundation","doi-asserted-by":"publisher","award":["1-11-1"],"award-info":[{"award-number":["1-11-1"]}],"id":[{"id":"10.13039\/501100004330","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004330","name":"Smoking Research Foundation","doi-asserted-by":"publisher","award":["2019T009"],"award-info":[{"award-number":["2019T009"]}],"id":[{"id":"10.13039\/501100004330","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Cancer research in Rwanda is estimated to be less than 1% of the total African cancer research output with limited research on colorectal cancer (CRC). Rwandan patients with CRC are young, with more females being affected than males, and most patients present with advanced disease. Considering the paucity of oncological genetic studies in this population, we investigated the mutational status of CRC tissues, focusing on the Adenomatous polyposis coli (APC), Kirsten rat sarcoma (KRAS), and Homeobox B13 (HOXB13) genes. Our aim was to determine whether there were any differences between Rwandan patients and other populations. To do so, we performed Sanger sequencing of the DNA extracted from formalin-fixed paraffin-embedded adenocarcinoma samples from 54 patients (mean age: 60 years). Most tumors were located in the rectum (83.3%), and 92.6% of the tumors were low-grade. Most patients (70.4%) reported never smoking, and 61.1% of patients had consumed alcohol. We identified 27 variants of APC, including 3 novel mutations (c.4310_4319delAAACACCTCC, c.4463_4470delinsA, and c.4506_4507delT). All three novel mutations are classified as deleterious by MutationTaster2021. We found four synonymous variants (c.330C&gt;A, c.366C&gt;T, c.513T&gt;C, and c.735G&gt;A) of HOXB13. For KRAS, we found six variants (Asp173, Gly13Asp, Gly12Ala, Gly12Asp, Gly12Val, and Gln61His), the last four of which are pathogenic. In conclusion, here we contribute new genetic variation data and provide clinicopathological information pertinent to CRC in Rwanda.<\/jats:p>","DOI":"10.3390\/cimb45050277","type":"journal-article","created":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T10:01:13Z","timestamp":1684404073000},"page":"4359-4374","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinicopathological Characteristics and Mutational Landscape of APC, HOXB13, and KRAS among Rwandan Patients with Colorectal Cancer"],"prefix":"10.3390","volume":"45","author":[{"given":"Felix","family":"Manirakiza","sequence":"first","affiliation":[{"name":"Department of Pathology, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 3286, Rwanda"},{"name":"Department of Pathology, University Teaching Hospital of Kigali, Kigali P.O. Box 655, Rwanda"},{"name":"Department of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-Ku, Shizuoka 431-3192, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5863-7026","authenticated-orcid":false,"given":"Eric","family":"Rutaganda","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University Teaching Hospital of Kigali, Kigali P.O. Box 655, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetaka","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-Ku, Shizuoka 431-3192, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9085-5429","authenticated-orcid":false,"given":"Yuji","family":"Iwashita","sequence":"additional","affiliation":[{"name":"Department of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-Ku, Shizuoka 431-3192, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6941-7320","authenticated-orcid":false,"given":"Belson","family":"Rugwizangoga","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 3286, Rwanda"},{"name":"Department of Pathology, University Teaching Hospital of Kigali, Kigali P.O. Box 655, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benoit","family":"Seminega","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University Teaching Hospital of Kigali, Kigali P.O. Box 655, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Dusabejambo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University Teaching Hospital of Kigali, Kigali P.O. Box 655, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gervais","family":"Ntakirutimana","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Teaching Hospital of Kigali, Kigali P.O. Box 655, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deogratias","family":"Ruhangaza","sequence":"additional","affiliation":[{"name":"Department of Pathology, Butaro Hospital, Musanze P.O. Box 59, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annette","family":"Uwineza","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Teaching Hospital of Kigali, Kigali P.O. Box 655, Rwanda"},{"name":"Department of Biochemistry, Molecular Biology and Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 3286, Rwanda"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuya","family":"Shinmura","sequence":"additional","affiliation":[{"name":"Department of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-Ku, Shizuoka 431-3192, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0779-3088","authenticated-orcid":false,"given":"Haruhiko","family":"Sugimura","sequence":"additional","affiliation":[{"name":"Department of Tumor Pathology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-Ku, Shizuoka 431-3192, Japan"},{"name":"Sasaki Institute Sasaki Foundation, 2-2 Kanda Surugadai, Chiyoda-Ku, Tokyo 101-0062, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1200\/GO.21.00079","article-title":"Systematic Review of Cancer Research Output From Africa, With Zambia as an Example","volume":"7","author":"Kayamba","year":"2021","journal-title":"JCO Glob. 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