Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations

Breast cancer (BC) is the most common cancer among African women and is the second most common cause of cancer deaths in Africa as estimated by GLOBOCAN 2018. Cancer incidence is increasing in Africa and is associated largely with lifestyle changes, resulting from increased urbanization. Ferlay et al predicted a 49% increase in BC incidence across Africa between 2018 and 2040, an increase faster than any other region in the world. The International Association of Cancer Registries cancer incidence report includes data for only 20 of 46 sub-Saharan African (SSA) countries, and it is likely that the incidence of BC is under-reported owing to lack of infrastructure for cancer diagnosis in resourceconstrained countries in SSA. Also, owing to the large burden of communicable and other noncommunicable diseases in SSA, most resources are directed at controlling these diseases. Cancer research, especially molecular research, in SSA is often deprioritized against other pressing public health concerns.

[1]  Jaana M. Hartikainen,et al.  Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. , 2021, The New England journal of medicine.

[2]  Anisah W. Ghoorah,et al.  High-depth African genomes inform human migration and health , 2020, Nature.

[3]  F. Couch,et al.  Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. , 2020, Journal of the National Cancer Institute.

[4]  M. Kotze,et al.  Pioneering Informed Consent for Return of Research Results to Breast Cancer Patients Facing Barriers to Implementation of Genomic Medicine: The Kenyan BRCA1/2 Testing Experience Using Whole Exome Sequencing , 2020, Frontiers in Genetics.

[5]  P. Sung,et al.  The antitumorigenic roles of BRCA1–BARD1 in DNA repair and replication , 2020, Nature Reviews Molecular Cell Biology.

[6]  A. Dem,et al.  Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal , 2020, npj Genomic Medicine.

[7]  O. Olopade,et al.  Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon , 2019, Cancer Epidemiology, Biomarkers & Prevention.

[8]  Dan J Stein,et al.  Burden of non-communicable diseases in sub-Saharan Africa, 1990-2017: results from the Global Burden of Disease Study 2017. , 2019, The Lancet. Global health.

[9]  T. Ngoma,et al.  Cancer control in Africa: is cancer research a luxury or necessity? , 2019, Ecancermedicalscience.

[10]  Martha H Thomas,et al.  Beyond BRCA: Review of Hereditary Syndromes Predisposing to Breast Cancer. , 2019, Journal of breast imaging.

[11]  F. Couch,et al.  Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future. , 2019, American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting.

[12]  A. Dem,et al.  Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer , 2019, BMC Medical Genetics.

[13]  M. Ostacher,et al.  How genome-wide association studies (GWAS) made traditional candidate gene studies obsolete , 2019, Neuropsychopharmacology.

[14]  H. Salehiniya,et al.  Epidemiological characteristics of and risk factors for breast cancer in the world , 2019, Breast cancer.

[15]  Scott M. Williams,et al.  The Missing Diversity in Human Genetic Studies , 2019, Cell.

[16]  C. Lewis,et al.  Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population , 2019, Carcinogenesis.

[17]  A. Aseffa,et al.  Vitamin D Status and Association of VDR Genetic Polymorphism to Risk of Breast Cancer in Ethiopia , 2019, Nutrients.

[18]  E. Bonora,et al.  Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso , 2019, Biomolecular concepts.

[19]  A. A. Zouré,et al.  Glutathione S-transferase M1 (GSTM1) and T1 (GSTT1) variants and breast cancer risk in Burkina Faso , 2019, Biomolecular concepts.

[20]  D M Parkin,et al.  Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods , 2018, International journal of cancer.

[21]  Zachary Munn,et al.  Systematic review or scoping review? Guidance for authors when choosing between a systematic or scoping review approach , 2018, BMC Medical Research Methodology.

[22]  A. Jemal,et al.  Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries , 2018, CA: a cancer journal for clinicians.

[23]  T. Walsh,et al.  Inherited Breast Cancer in Nigerian Women , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[24]  M. Mzibri,et al.  BRCA1 c.68_69delAG (exon2), c.181T>G (exon5), c.798_799delTT and 943ins10 (exon11) mutations in Burkina Faso , 2018, Journal of public health in Africa.

[25]  Y. Bakri,et al.  Association between glutathione peroxidase 1 codon 198 variant and the occurrence of breast cancer in Rwanda , 2018, Molecular genetics & genomic medicine.

[26]  M. Mzibri,et al.  CHEK2 Germ Line Mutations are Lacking among Familial and Sporadic Breast Cancer Patients in Rwanda , 2018, Asian Pacific journal of cancer prevention : APJCP.

[27]  C. Vachon,et al.  Common Genetic Variation and Breast Cancer Risk—Past, Present, and Future , 2018, Cancer Epidemiology, Biomarkers & Prevention.

[28]  Y. Bakri,et al.  Association of p53 Codon 72 Polymorphism with Breast Cancer in a Rwandese Population , 2017, Pathobiology.

[29]  J. Tsoka-Gwegweni,et al.  Breast cancer among women in sub-Saharan Africa: prevalence and a situational analysis , 2017 .

[30]  K. Lukong,et al.  Breast cancer in Africa: prevalence, treatment options, herbal medicines, and socioeconomic determinants , 2017, Breast Cancer Research and Treatment.

[31]  W. Chung,et al.  Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers , 2017, JAMA.

[32]  Lara E Sucheston-Campbell,et al.  Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry , 2017, Cancer Epidemiology, Biomarkers & Prevention.

[33]  Lara E Sucheston-Campbell,et al.  Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer. , 2016, Human molecular genetics.

[34]  Sheena M. Scroggins,et al.  Improving performance of multigene panels for genomic analysis of cancer predisposition , 2016, Genetics in Medicine.

[35]  A. Vral,et al.  BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer , 2015, BMC Cancer.

[36]  S. West,et al.  Structure and Mechanism of Action of the BRCA2 Breast Cancer Tumor Suppressor , 2014, Nature Structural &Molecular Biology.

[37]  E. van Limbergen,et al.  From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo , 2014, BMC Public Health.

[38]  Richard J. K. Taylor,et al.  A review of life expectancy and infant mortality estimations for Australian Aboriginal people , 2014, BMC Public Health.

[39]  K. Nathanson,et al.  Common breast cancer risk variants in the post-COGS era: a comprehensive review , 2013, Breast Cancer Research.

[40]  O. Olopade,et al.  High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients , 2012, International journal of cancer.

[41]  M. C. Leske,et al.  Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry , 2012, Breast Cancer Research and Treatment.

[42]  W. Foulkes,et al.  A founder BRCA2 mutation in non‐Afrikaner breast cancer patients of the Western Cape of South Africa , 2012, Clinical genetics.

[43]  O. Díez,et al.  Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. , 2011, Oncology letters.

[44]  J. Witte,et al.  Validation of Genome-Wide Prostate Cancer Associations in Men of African Descent , 2010, Cancer Epidemiology, Biomarkers & Prevention.

[45]  C. Rotimi,et al.  Transferability and Fine-Mapping of Genome-Wide Associated Loci for Adult Height across Human Populations , 2009, PloS one.

[46]  L. Kuller,et al.  Cytochrome P450 1B1 Val432Leu polymorphism and breast cancer risk in Nigerian women: a case control study , 2009, Infectious Agents and Cancer.

[47]  L. Kuller,et al.  Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women: A case control study , 2008, BMC Cancer.

[48]  N. Rahman,et al.  ATM and breast cancer susceptibility , 2006, Oncogene.

[49]  H. Arksey,et al.  Scoping studies: towards a methodological framework , 2005 .

[50]  V. Beral,et al.  Risk factors for oesophageal, lung, oral and laryngeal cancers in black South Africans , 2002, British Journal of Cancer.

[51]  C. Adebamowo,et al.  Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer , 2000, Human Genetics.

[52]  C. Deng,et al.  Roles of BRCA1 and its interacting proteins , 2000, BioEssays : news and reviews in molecular, cellular and developmental biology.

[53]  Olufunmilayo I. Olopade,et al.  Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer , 2000, Human Genetics.

[54]  D E Weeks,et al.  Polygenic disease: methods for mapping complex disease traits. , 1995, Trends in genetics : TIG.

[55]  C. Adebamowo,et al.  Evidence for an ancient BRCA1 mutation in breast cancer patients of yoruban ancestry , 2008, Familial Cancer.