Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations

Hayat, M; Chen, Wenlong Carl; Brandenburg, Jean-Tristan; Villiers, Chantal Babb de; Ramsay, Michèle; Mathew, Christopher

doi:10.1200/go.21.00089

Cited by 4 publications

(5 citation statements)

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“…Likely pathogenic heterozygous variants were identi-fiedinPALB2, RYR1andLDLR.PALB2variantshavebeen reported to be associated with an elevated risk of breast cancer and other tumor types (Adedokun et al, 2020; Hayat et al, 2021;Preobrazhenskaya et al, 2021;Zheng et al, 2018). The prevalence of breast cancer is high in Africanwomenanditisthesecondmostcommoncause of cancer mortality in Africa (Bray et al, 2018;Hayat et al, 2021). It is predicted that the incidence of breast cancerwillincreaseacrossAfricainthecomingdecades (Ferlayetal., 2019).Duetolimitedresources,stepsfocusing on risk management and early diagnosis should be encouraged,especiallyforthoseathighrisk;thisincludes comprehensive-genomicsequencing (Zhengetal., 2018).…”

Section: Discussionmentioning

confidence: 99%

“…Likely pathogenic heterozygous variants were identified in PALB2, RYR1 and LDLR . PALB2 variants have been reported to be associated with an elevated risk of breast cancer and other tumor types (Adedokun et al, 2020 ; Hayat et al, 2021 ; Preobrazhenskaya et al, 2021 ; Zheng et al, 2018 ). The prevalence of breast cancer is high in African women and it is the second most common cause of cancer mortality in Africa (Bray et al, 2018 ; Hayat et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

“…PALB2 variants have been reported to be associated with an elevated risk of breast cancer and other tumor types (Adedokun et al, 2020 ; Hayat et al, 2021 ; Preobrazhenskaya et al, 2021 ; Zheng et al, 2018 ). The prevalence of breast cancer is high in African women and it is the second most common cause of cancer mortality in Africa (Bray et al, 2018 ; Hayat et al, 2021 ). It is predicted that the incidence of breast cancer will increase across Africa in the coming decades (Ferlay et al, 2019 ).…”

Section: Discussionmentioning

confidence: 99%

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Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

Oladayo

Gowans

Awotoye

et al. 2023

Molec Gen & Gen Med

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IntroductionThe frequency and implications of secondary findings (SFs) from genomic testing data have been extensively researched. However, little is known about the frequency or reporting of SFs in Africans, who are underrepresented in large‐scale population genomic studies. The availability of data from the first whole‐genome sequencing for orofacial clefts in an African population motivated this investigation.MethodsIn total, 130 case‐parent trios were analyzed for SFs within the ACMG SFv.3.0 list genes. Additionally, we filtered for four more genes (HBB, HSD32B, G6PD and ACADM).ResultsWe identified 246 unique variants in 55 genes; five variants in four genes were classified as pathogenic or likely pathogenic (P/LP). The P/LP variants were seen in 2.3% (9/390) of the subjects, a frequency higher than ~1% reported for diverse ethnicities. On the ACMG list, pathogenic variants were observed in PRKAG (p. Glu183Lys). Variants in the PALB2 (p. Glu159Ter), RYR1 (p. Arg2163Leu) and LDLR (p. Asn564Ser) genes were predicted to be LP.ConclusionThis study provides information on the frequency and pathogenicity of SFs in an African cohort. Early risk detection will help reduce disease burden and contribute to efforts to increase knowledge of the distribution and impact of actionable genomic variants in diverse populations.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

Oladayo

Gowans

Awotoye

et al. 2023

Molec Gen & Gen Med

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“…It is projected that the incidence of breast cancer in Africa would rise by 49% faster than in any other region in 2040 [2,17]. This incidence remains under-reported due to a lack of infrastructure for cancer detection in resource-constrained countries in sub-Saharan Africa, as only 20 of 46 sub-Saharan African nations are represented in cancer incidence report by the International Association of Cancer Registries [16][17][18].…”

Section: Prevalence Of Breast Cancermentioning

confidence: 99%

Understanding Breast Cancer: A Key Emphasis on Molecular Signalling Pathways and Phytotherapy

2023

IJOR

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Globally, 2.3 million women have been diagnosed with breast cancer, making it a significant global public health concern [1]. By 2040, the annual rate of new cases is projected to reach 3 million, an increase of nearly 40 percent from 2020 [2]. Lifelong exposures to a variety of endogenous and exogenous variables, as well as the interaction of genetic elements, contribute to the complexity of breast cancerogenesis [3]. Normal human growth is strictly regulated by the signalling pathways that allow cells to communicate with one another and their surroundings. Breast carcinoma is caused by alterations in signalling networks that regulate cell motility, differentiation, cell proliferation, and cell apoptosis. Surgery, radiotherapy, chemotherapy, hormonal therapy, and targeted therapy are the primary forms of breast cancer treatment [4]. However, phytotherapy have shown promise because they are more effective, safer, and have a lower resistance rate than hormone-targeting and chemotherapeutics [5]. Alternatively, plant-derived natural compounds that have anti-cancer potential by targeting impaired signalling pathways such as Wnt/β-Catenin, NF-κB, PI3K/Akt/mTOR, and epithelial-to-mesenchymal-related pathways. This comprehensive review discusses the actual incidence of breast cancer, its risk factors, diagnostic methods, associated pathogenesis theories, and the universal classification of malignant breast tumours. Finally, we accentuate on the role of phytocompounds to reverse the associated molecular abnormalities, for more effective therapy and a better management of breast carcinomas.

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“…African populations are more genetically diverse than Asian or European populations ( 1 , 2 ), but few genomic studies have been conducted in African populations ( 3 ). Only 2.4% of genome-wide association studies (GWAS) have included Africans or African Americans ( 2 ), and very little information is available regarding cancer genomics in African populations ( 3 , 4 ). A meta-analysis by Rotimi et al ( 3 ) found that between January 1990 and December 2019, only 0.329% of cancer-related publications globally focused on African populations, and only 0.016% were related to cancer genetics or genomics in Africa.…”

Section: Introductionmentioning

confidence: 99%

FGFR2 genetic variants in women with breast cancer

Dix‑Peek,

Dickens,

Augustine

et al. 2023

Mol Med Rep

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Black African populations are more genetically diverse than others, but genetic variants have been studied primarily in European populations. The present study examined the association of four single nucleotide polymorphisms (SNPs) of the fibroblast growth factor receptor 2, associated with breast cancer in non-African populations, with breast cancer in Black, southern African women. Genomic DNA was extracted from whole blood samples of 1,001 patients with breast cancer and 1,006 controls (without breast cancer), and the rs2981582, rs35054928, rs2981578, and rs11200014 polymorphisms were analyzed using allele-specific Kompetitive allele-specific PCR™, and the χ 2 or Fisher's exact tests were used to compare the genotype frequencies. There was no association between those SNPs and breast cancer in the studied cohort, although an association was identified between the C/C homozygote genotype for rs2981578 and invasive lobular carcinoma. These results show that genetic biomarkers of breast cancer risk in European populations are not necessarily associated with risk in sub-Saharan African populations. African populations are more heterogenous than other populations, and the information from this population can help focus genetic risks of cancer in this understudied population.

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Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations

Cited by 4 publications

References 59 publications

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts

Understanding Breast Cancer: A Key Emphasis on Molecular Signalling Pathways and Phytotherapy

FGFR2 genetic variants in women with breast cancer

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