Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases

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dc.contributor.authorKatsidzira, Leolinen_ZA
dc.contributor.authorVorster, Annaen_ZA
dc.contributor.authorGangaidzo, Innocent T.en_ZA
dc.contributor.authorMakunike-Mutasa, Rudoen_ZA
dc.contributor.authorGovender, Dhirenen_ZA
dc.contributor.authorRusakaniko, Simbarasheen_ZA
dc.contributor.authorThomson, Sandieen_ZA
dc.contributor.authorMatenga, Jonathan A.en_ZA
dc.contributor.authorRamesar, Rajen_ZA
dc.date.accessioned2021-10-25T10:32:26Z
dc.date.available2021-10-25T10:32:26Z
dc.date.issued2019-10-24
dc.descriptionCITATION: Katsidzira, L. et al. 2019. Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases. PLoS ONE, 14(10). doi:10.1371/journal.pone.0224023
dc.descriptionThe original publication is available at https://journals.plos.org/plosone/
dc.description.abstractBackground: Approximately 25% of colorectal cancer patients in sub-Saharan Africa are younger than 40 years, and hereditary factors may contribute. We investigated the frequency and patterns of inherited colorectal cancer among black Zimbabweans. Methods: A population-based cross-sectional study of ninety individuals with a new diagnosis of colorectal cancer was carried out in Harare, Zimbabwe between November 2012 and December 2015. Phenotypic data was obtained using interviewer administered questionnaires, and reviewing clinical and pathology data. Cases were screened for mismatch repair deficiency by immunohistochemistry and/or microsatellite instability testing, and for MLH1, MSH2 and EPCAM deletions using multiplex ligation-dependent probe amplification. Next generation sequencing using a 16-gene panel was performed for cases with phenotypic features consistent with familial colorectal cancer. Variants were assessed for pathogenicity using the mean allele frequency, phenotypic features and searching online databases. Results: Three Lynch syndrome cases were identified: MSH2 c.2634G>A pathogenic mutation, c.(1896+1_1897–1)_(*193_?)del , and one fulfilling the Amsterdam criteria, with MLH1 and PMS2 deficiency, but no identifiable pathogenic mutation. Two other cases had a strong family history of cancers, but the exact syndrome was not identified. The prevalence of Lynch syndrome was 3·3% (95% CI 0·7–9·4), and that of familial colorectal cancer was 5·6% (95% CI, 1·8–12·5). Conclusions: Identifying cases of inherited colorectal cancer in sub-Saharan Africa is feasible, and our findings can inform screening guidelines appropriate to this setting.en_ZA
dc.description.urihttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0224023
dc.description.versionPublisher's version
dc.format.extent13 pages
dc.identifier.citationKatsidzira, L. et al. 2019. Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases. PLoS ONE, 14(10). doi:10.1371/journal.pone.0224023
dc.identifier.issn1932-6203 (online)
dc.identifier.otherdoi:10.1371/journal.pone.0224023
dc.identifier.urihttp://hdl.handle.net/10019.1/123305
dc.language.isoen_ZAen_ZA
dc.publisherPublic Library of Science
dc.rights.holderAuthors retain rights
dc.subjectColon (Anatomy) -- Cancer -- Genetic aspects -- Zimbabween_ZA
dc.titleInvestigation on the hereditary basis of colorectal cancers in an African population with frequent early onset casesen_ZA
dc.typeArticleen_ZA
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