5 research outputs found

    Survival rates of head and neck cancers in Ghana: a retrospective study at the Komfo Anokye Teaching Hospital

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    OBJECTIVE: Data was collected to evaluate the survival rates of head and neck (conjunctiva, oropharyngeal and non-oropharyngeal) squamous cell carcinomas in Ghana. DATA DESCRIPTION: We provided data on a retrospective review of 8 years (January 2004 to December 2009) survival rate of head and neck squamous cell carcinomas (HNSCCs) at the Komfo Anokye Teaching Hospital in Ghana. The data consist of patient demographic data and clinicopathological findings which includes tumour site, tumour stage and histological grades of the patients. Clinical outcome measurement was death through to January 2013 on record and confirmed from the hospitals birth and death registry department. More than 85% of death cases were confirmed by gender, age, and folder identification numbers from the birth and death registry

    Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate

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    The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P. These include novel protein-truncating DNMs in the ACTL6A, ARHGAP10, MINK1, TMEM5 and TTN genes; as well as missense variants in ACAN, DHRS3, DLX6, EPHB2, FKBP10, KMT2D, RECQL4, SEMA3C, SEMA4D, SHH, TP63, and TULP4. Many of these protein-altering DNMs were predicted to be pathogenic. Analysis using mouse transcriptomics data showed that some of these genes are expressed during the development of primary and secondary palate. Gene-set enrichment analysis of the protein-altering DNMs identified palatal development and neural crest migration among the few processes that were significantly enriched. These processes are directly involved in the etiopathogenesis of clefting. The analysis of the coding sequence in the WGS data provides more evidence of the opportunity for novel findings in the African genome
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