OBJECTIVE(S) Higher breast cancer mortality in African American (AA) and African (Afr) women, compared to European and White American (WA) women is partly explained by a lack of adequate targeted treatment options for Triple Negative Breast Cancer (TNBC). The prevalence of actionable somatic mutations in African populations has yet to be described.
METHODS A subset of 50 Ghanaian cases from the International Center for the Study of Breast Cancer Subtype biospecimen cohort were analysed using the Oncomine clinical genomics testing platform through Weill Cornell’s Englander Institute for Precision Medicine. The targeted gene panel interrogates 143 unique cancer genes including 73 oncogenes, 49 copy number alterations (CNA) genes, 26 tumour suppressor genes, and 23 fusion driver genes. All specimens were assembled through a surgically maintained international biorepository. Global ancestry was quantified as well and tested for associations with specific test mutation results. Specific mutations were assessed for “actionable status”, based on current clinical trial indications, reported as “Tiers 1-3” where Tier 3 mutations have an indication for an FDA-approved treatment.
RESULTS Across all samples, the highest frequency of gene-centred mutations was found in the TP53 gene with the second ‘most mutated’ gene being PIK3CA. These genes were also the most frequently mutated genes in our American patient samples, including African American and White-American samples. We found that the mutation loci occurred in different codons within these genes, compared to the most prevalent mutation hotspots in the American cohort. This suggests that the functional outcome of the mutations may also be different in the West African cases. We found that the Ghanaian samples had a higher frequency of Tier 1 and Tier 2 mutations, but this was not statistically significant in comparison to the American cohort; however, this analysis is ongoing we will reassess trends for significance as patient numbers accrue.
CONCLUSIONS West African ancestry is strongly correlated with TNBC status, as well as specific somatic variants related to clinical outcomes, due to oncogenic drivers. The presence and frequency of Tier 2 mutations indicate that targeted therapies are within reach for this population and further investigations of these targetable genes may be transformative for breast cancer outcomes in this population as we seek access to clinical trials.

OBJECTIVE(S) Breast cancer mortality is higher in African American (AA) compared to White American (WA) women, and this disparity is partly-explained by a two-fold higher incidence of triple negative breast cancer (TNBC). The role of germline genetic factors in these differences is unclear.
METHODS A biospecimen cohort of 3315 breast cancer cases were used for this study. Subsets of the total numbers (760 AA; 962 WA; 913 West African/Ghanaian; 252 East African/Ethiopian) were analyzed for genotypes of candidate alleles. Healthy controls were also genotyped, matching 20% of cases, to measure associations with overall breast cancer risk and TNBC in particular. All specimens were assembled through a surgically-maintained international biorepository. Global ancestry was quantified as well and tested for associations with tumor phenotype.
RESULTS TNBC frequency was highest in Ghanaian and AA cases (48% and 44% respectively; p<0.0001) and lowest in Ethiopian and WA cases (17% and 24% respectively; p<0.0001). TNBC cases had significantly higher West African ancestry than non-TNBC (p<0.0001). Frequency of the Duffy-null allele (rs2814778; an African ancestral genotype adopted under selective pressure as protection against malaria pathogens in West Africa) was non-significantly associated with overall incidence (p=0.078) but significantly associated with TNBC-specific risk (p=0.0004), quantified West African Ancestry (p<0.0001) and was more common in AA, Ghanaians, and TNBC cases. Additionally, rs13000023 (previously associated with breast cancer risk) had borderline significant association with TNBC-specific risk in Ghanaians (p=0.049).
CONCLUSIONS West African ancestry is strongly correlated with TNBC status, as well as germline variants related to breast cancer risk. Specifically, the Duffy-null allele (previously shown to be associated with pro-inflammatory chemokines implicated in tumor pathogenesis) accounted for TNBC risk in our cohort.

OBJECTIVE Although prostate cancer is the leading cause of cancer mortality for African men, the vast majority of known disease associations have been detected in individuals who have European ancestry. Furthermore, most genome-wide association studies have used genotyping arrays that are hindered by SNP ascertainment bias. To overcome these disparities in genomic medicine, the Men of African Descent and Carcinoma of the Prostate (MADCaP) Network has developed a custom genotyping array that is optimized for the detection of genetic associations with prostate cancer in African populations.
METHODS This two-peg array is based on the Affymetrix Axiom platform. Imputation accuracy was quantified using over 3000 whole genome sequences from sub-Saharan Africa. We assessed the effectiveness of the MADCaP Array by genotyping over 800 prostate cancer cases and controls from seven study sites in Ghana, Nigeria, Senegal, and South Africa.
RESULTS The MADCaP Array contains more than 1.5 million markers and an imputation backbone that successfully tags 94% of common genetic variants in African populations (MAF > 0.05, r2 threshold = 0.8). To aid in fine mapping, the MADCaP Array also has a high density of markers in genomic regions near known cancer associations, including 8q24. There is a substantial amount of overlap between markers on the MADCaP Array and markers that are on the OncoArray and the H3Africa array. Call rates per-marker exceed 99.5%. We find that prostate cancer cases and controls are ancestry-matched for each study site. PCA and ADMIXTURE plots reveal that samples from Ghana and Nigeria cluster together, and that samples from Senegal and South Africa yield distinct ancestry clusters. We also identify cancer-associated loci that have large allele frequency differences between African populations.
CONCLUSIONS The MADCaP Array will allow investigators to identify novel Africa-specific disease associations and to fine-map genetic loci that are associated with prostate cancer.

OBJECTIVE Quality pathology services are essential for effective cancer care because of its role in diagnosis, prognosis, and guiding clinical management.
In this study we seek to establish a reliable workflow for testing ER/PR/Her2 by immunohistochemistry(IHC) in patients receiving neoadjuvant chemotherapy(NAC) and compare to the results identified in the biopsy prior to treatment when available.
METHODS Patients receiving NAC for breast cancer were prospectively identified. A pathologist was alerted when the mastectomy was scheduled. A mechanism to transport the specimen to pathology was established. The specimen was grossed fresh and submitted for histopathological analysis. Sections of tumour were selected and IHC prognostic markers, namely ER/PR/Her2 were performed with adequate controls following ASCO/CAP guidelines. Clinical information and histopathological findings were recorded. An attempt to identify the pre-NAC biopsies for ER/PR/Her2 result comparison is undergoing.
RESULTS Thirty-nine patients having mastectomy and axillary lymph node (ALN) dissection were identified between 4/2018 and 3/2019. Patients’ age ranged from 32-84 years. All patients had biopsy or FNA confirming carcinoma prior to the start of treatment. 20.5% had ER/PR/Her2 performed in the prior biopsy (currently available records). There were multiple combinations of NAC with treatment duration ranging from 3 to 6 months. None of the patients received Herceptin. For each case a pathologist was on standby. All 39 cases were transported in ice-pack to pathology and prosected within one hour of surgical removal. Formalin Fixation ranged from 12 to 24 hours and tissue processing followed histology protocol. Ten out of 39 patients had a complete pathologic response (pCR). One of the 10 patients with pCR in the breast had residual disease in an ALN. Twenty-nine patients had residual tumour and ER/PR/HER2 performed: 13 ER+, 8 PR+ and 10 HER2+. 11 tumours were triple negative(TN), 6 ER-Her2+, 4 ER+Her2+ and 9 ER+Her2-. All IHC controls were appropriate.
ER/PR/HER2 status of the prior biopsied material was available for 8 patients. Two of these eight patients had breast pCR and prior biopsies with ER+PR+Her2- and a TN result. Six patients had IHC results for both prior biopsy and mastectomy showing. 100% concordance. Collection of data for the remaining biopsy cases is ongoing.
CONCLUSION The established workflow to ensure compliance to ASCO/CAP guidelines was reliable with high ER/PR/HER2 concordance with IHC controls and available prior biopsy results. The workflow involved a pathologist being on standby for the mastectomy availability, transporting the specimen and performing gross examination on a fresh specimen.

OBJECTIVE Oesophageal cancer (EC) portends a poor prognosis, with most patients presenting with advanced disease. Optimal management strategies for advanced EC in resource-constrained settings have yet to be established. This systematic review seeks to evaluate the literature on treatments for EC throughout Africa, including chemotherapy, radiotherapy, surgical and endoscopic interventions and to compare the efficacy and safety of varying treatment strategies for EC in this context.
METHODS We systematically searched three electronic databases (Pubmed, Embase and African Index Medicus) and conference proceedings (AORTIC, CUGH, IUCC, AARC, NCI) for studies published from 1980-2017 on treatment strategies for EC in Africa. References were reviewed with Covidence software (Veritas Health Innovation) using pre-determined eligibility criteria. Additional references were identified through manual review. The systematic review was registered with PROSPERO (CRD42017071546) and followed PRISMA guidelines. Methodological quality/risk of bias was assessed using the Cochrane Risk of Bias tool and Newcastle-Ottawa Scale.
RESULTS Of the 8,292 references identified for screening: 2,456 were from electronic databases, 5,785 conference proceedings, and 51 by manual review. Fifty-six studies met the inclusion criteria (55 articles and one conference abstract). Case series constituted the majority of studies: 14 were institutional case series reporting on multiple treatment modalities, eight on oesophageal stents, eight on esophagectomies, four on all surgeries, five on other procedures, and one on chemoradiation. Nine RCTs were identified, of which five prospectively compared different treatment modalities in this context (one investigating chemotherapy vs. chemoradiation, four evaluating rigid plastic stents vs. other treatments).
CONCLUSIONS This systematic review summarizes the research on treatment of EC in Africa published over the last four decades and outlines critical gaps in knowledge related to EC management in this context. Additional research is needed on outcomes related to quality of life and evaluating self-expandable metallic stents in comparison to other treatment modalities.

INTRODUÇÃO Estima-se que a nível mundial 18,1 milhões de novos casos de cancro são diagnosticados anualmente, causando 9,6 milhões de mortes em 2018 [1]. A incidência do câncer colorretal foi 6,1% com uma mortalidade de 9,2%. Em geral, a incidência do câncer colorretal ocupa o terceiro lugar com uma mortalidade observada em segundo lugar. Estas incidências são cerca de três vezes maiores nos países desenvolidos. Os Tumores Gastrointestinais passam a ser os mais frequentes na Europa em 24 % dos tumores, com especial incidência para os tumores do Estômago, Cólon e Recto1.
OBJECTIVO Este trabalho tem como objetivo determinar a frequência dos tumores gastrointestinais diagnosticados por endoscopia com confirmação histológica no Hospital Central de Maputo(HCM) durante 5 anos e correlacionar com o sexo, idade e localização anatómica.
METODOLOGIA Trata-se de um estudo, descritivo, transversal, retrospectivo de base hospitalar do Serviço de Gastroenterologia durante um período de 5 anos (2014-2018). Foi construída uma base de dados na folha de cálculo de Excell. Estudo das variáveis referentes a idade, sexo, localização anatómica dos tumores.
RESULTADOS: Das 8310 endoscopias realizadas, 642 (7,73%) foram sugestivos de câncro por endoscopia e destes 486 (5.85 %) foram confirmados por histologia. A maior parte dos tumores foi diagnosticado com idade média de 51 anos, o sexo feminino foi mais predominate 236 (52%) e masculino 227(48%). O tumor do Esôfago foi o mais observados 303 (62.34 %), seguido por estômago 57 (11.73 %), cólon 50 (10.29 %) , recto 24 (4.97%).
CONCLUSÃO Em geral, a incidência do câncro esôfago ocupa o primeiro na frequencia dos tumores gastrointestinas no hospital central de Maputo seguido pelos cancros do cólon e reto. O sexo feminino foi o mais afetado. Demonstrando assim a necessidade de um programa de rastreio do cancro no pais.

OBJECTIVES The eastern corridor of Africa is impacted by a high burden of oesophageal cancer (OEC) with more than 90% of patients presenting with advanced disease and obstructive dysphagia. Self-expanding metal stents (SEMS) have been previously reported as safe and effective for palliation in resource-limited settings; however, access to stents within the region has historically been limited by prohibitive costs and barriers to access.
METHODS The African Esophageal Cancer Consortium (AfrECC) partnered with the Clinton Health Access Initiative (CHAI) to: (1) conduct a market analysis of manufacturers in order to identify an industry partner committed to supplying affordably priced, high quality SEMS; (2) develop multi-national procurement and regulatory strategies for importing SEMS; (3) train East African endoscopists to deploy SEMS; and (4) establish a device registry.
RESULT Following an extensive analysis of stent manufacturers in China and the U.S., Boston Scientific Corporation (BSC) announced its commitment to collaborate with AfrECC and CHAI to launch an access program to provide SEMS to patients in Tanzania, Kenya, Malawi and Zambia at a generously subsidized price. Tanzania, Kenya and Zambia have subsequently undertaken procedures to navigate the necessary regulatory approvals for stent procurement. In parallel, a skills-training program for safe endoscopic placement of SEMS has been developed. In November 2018 and April 2019, the first two trainings were performed in Kenya and Tanzania. A device registry has been developed and will be implemented at all sites to monitor safety, measure competency, oversee supply chain management, and reinforce proper endoscopic techniques.
CONCLUSION Improved access to SEMS in East Africa will provide palliation and nutritional support for OEC patients. We share the example of this collaboration between AfrECC, CHAI, and BSC to highlight an innovative solution to align regional needs with a supply chain for a high priority medical device.

BACKGROUND Due to increasing cancer incidence and longer survival, cancer care has evolved from focusing on survival to maintaining and improving quality of life. This makes supportive care a priority for effective/efficient cancer care, however supportive care needs have not been adequately met for cancer patients in Uganda.
OBJECTIVES To explore and document patients’ experiences of seeking cancer treatment in Uganda to inform the development of navigation programs at Uganda Cancer Institute.
METHODS We conducted a qualitative study over a period of 7 months (September 2017-March 2018). Seventy-three adults (patients and health workers) participated in the study. Purposive/Maximum variation sampling was used to recruit participants from a wide range of experience. Two experienced researchers conducted the in-depth interviews (at Uganda Cancer Institute and place of work) and Focus Group Discussions. Thematic Analysis was used to analyze the data.
RESULTS Themes that emerged include delayed diagnosis due to lack of awareness/knowledge about cancer symptoms; healthcare professionals’ low suspicion towards cancer symptoms/signs; inadequate facilities for cancer diagnosis; cancer screening policy implications; and myths about cancer/disease/health. Psychological needs also came out very strongly due emotion distress of knowing the cancer diagnosis, concerns about dying, disclosure issues and stigma/discrimination. Difficulties in getting admitted to the cancer center; retrieving medical records; locating for available services; and accessing the senior oncologists caused enormous delays in initiating/receiving cancer treatment. While corruption/bribery; language barriers and problematic/traumatic interactions with medical professionals led to frustrations and emotional distress. Treatment needs included, recurrent drug stock-outs, unaffordable drugs, sourcing for investigations outside the cancer center; poor quality of drugs; medical/drug errors and high cost of radiotherapy treatment.
CONCLUSION While cancer diagnosis/treatment services in Uganda are limited, this research suggests that interventions like navigation programs and referral guidelines could address some of the supportive care needs to enhance timely/efficient cancer care that could ultimately improve patient satisfaction and medical outcomes for cancer patients in Uganda.