Genetics of breast cancer in African populations: a literature review

Abbad, Anass; Baba, Hanâ; Dehbi, Hind; Elmessaoudi-Idrissi, Mohcine; Elyazghi, Z.; Abidi, Omar; Radouani, Fouzia

doi:10.1017/gheg.2018.8

Cited by 28 publications

(25 citation statements)

References 92 publications

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“…The majority of the genetic studies about BC in sub-Saharan Africa is focused on the analysis of the mutational spectra of the BRCA1 / 2 genes [ 9 ]. With regard to the TP53 gene, two cases of female BC in native sub-Saharan African mutation carriers were recently reported within a familial LFS context [ 10 ], but, to our knowledge, comprehensive data on germline TP53 variation in sub-Saharan African BC case series are still lacking.…”

Section: Introductionmentioning

confidence: 99%

Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors

Aceto

Awadelkarim

Nicola

et al. 2019

Breast Cancer Res Treat

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Purpose The role of non-genetic factors as modifiers of TP53 -related hereditary breast cancer (BC) risk is debated. In this regard, little is known about the impact of germline TP53 mutations on BC in sub-Saharan Africa, where the disease often presents in non-contraceptive multiparous premenopausal women with extended history of breastfeeding. Herein, we report the germline TP53 mutations found in a series of 92 Sudanese premenopausal BC patients characterized for reproductive history. Methods The entire TP53 coding sequence, including intron–exon boundaries and UTRs, was analyzed via DHPLC and direct sequencing, and the association of TP53 genotypes with BC risk and with individual lifetime exposures to reproductive factors was investigated with statistical tools. Results The germline TP53 mutation spectrum comprised 20 variants, 15 in the non-coding and 5 in the coding region. The latter included a deleterious missense mutation, c.817C>T (p.Arg273Cys), in a unique patient, and the common and functionally relevant coding polymorphism at amino acid 72 [Pro72Arg (rs1042522)]. The non-coding mutations included c.919+1G>A, a known deleterious splice site mutation, also in a unique patient. Notably, the 2 carriers of deleterious TP53 mutations clustered in the subset of cases with stronger reproductive history relative to childbearing age. When analyzed in comparison to population controls, the codon 72 polymorphism did not reveal associations with BC. Conclusions Our study suggests that the codon 72 Arg>Pro polymorphism is not implicated in premenopausal BC susceptibility, whereas multiparity and breastfeeding might be BC risk factors for carriers of deleterious TP53 mutations. Electronic supplementary material The online version of this article (10.1007/s10549-019-05168-1) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors

Aceto

Awadelkarim

Nicola

et al. 2019

Breast Cancer Res Treat

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“…However, incorporating all known risk factors in risk prediction models still underestimates risk among some strata of the population 46 . In addition to the known modifiable risk factors, there are genetic predispositions and gene‐environmental interactions for which more studies are needed on the African continent 47,48 . In Nigeria, Zheng and collaborators found 11.1% of women with breast cancer carried inherited genetic mutations in BRCA1 and BRCA2 , 49 while the prevalence is lower among women of European ancestry.…”

Section: Discussionmentioning

confidence: 99%

The evolving epidemic of breast cancer in sub‐Saharan Africa: Results from the African Cancer Registry Network

Joko‐Fru

Jedy‐Agba

Korir

et al. 2020

Intl Journal of Cancer

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Breast cancer (BC) is the leading cause of cancer in sub‐Saharan Africa (SSA) with rapidly increasing incidence rates reported in Uganda and Zimbabwe. However, the magnitude of these rising trends in premenopausal and postmenopausal women is unknown in most African countries. We used data from the African Cancer Registry Network on incident breast cancers in women from 11 population‐based cancer registries in 10 countries representing each of the four SSA regions. We explored incidence changes among women before and after age 50 by calendar period and, where possible, generational effects in this unique sub‐Saharan African cohort. Temporal trends revealed increasing incidence rates in all registries during the study period, except in Nairobi where rates stabilised during 2010 to 2014 after rapidly increasing from 2003 to 2010 (APC = 8.5 95%, CI: 3.0‐14.2). The cumulative risk varied between and within regions, with the highest risks observed in Nairobi‐Kenya, Mauritius and the Seychelles. There were similar or more rapidly increasing incidence rates in women aged 50+ compared to women <50 years in all registries except The Gambia. Birth cohort analyses revealed increases in the incidence rates in successive generations of women aged 45 and over in Harare‐Zimbabwe and Kampala‐Uganda. In conclusion, the incidence of BC is increasing rapidly in many parts of Africa; however, the magnitude of these changes differs. These results highlight the need for urgent actions across the cancer continuum from in‐depth risk factor studies to provision of adequate therapy as well as the necessity of supporting the maintenance of good quality population‐based cancer registration in Africa.

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“…This research had omitted case-only studies and clinical trials. Therefore, to guide precise and more appropriate treatment interventions for the people of Africa, African scientists should be encouraged to identify more genes associated with BC employing high throughput methods such as NGS (27). For Africa, Jaratlerdsiri et al conducted the first tumornormal paired genome sequencing.…”

Section: Cancer Genomicsmentioning

confidence: 99%

Cancer Omics in Africa: Present and Prospects

et al. 2020

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During the last century, cancer biology has been arguably one of the most investigated research ﬁelds. To gain deeper insight into cancer mechanisms, scientists have been attempting to integrate multi omics data in cancer research. Cancer genomics, transcriptomics, metabolomics, proteomics, and metagenomics are the main multi omics strategies used currently in the diagnosis, prognosis, treatment, and biomarker discovery in cancer. In this review, we describe the use of different multi omics strategies in cancer research in the African continent and discuss the main challenges facing the implementation of these approaches in African countries such as the lack of training programs in bioinformatics in general and omics strategies in particular and suggest paths to address deficiencies. As a way forward, we advocate for the establishment of an “African Cancer Genomics Consortium” to promote intracontinental collaborative projects and enhance engagement in research activities that address indigenous aspects for cancer precision medicine.

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Genetics of breast cancer in African populations: a literature review

Cited by 28 publications

References 92 publications

Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors

Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors

The evolving epidemic of breast cancer in sub‐Saharan Africa: Results from the African Cancer Registry Network

Cancer Omics in Africa: Present and Prospects

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