Gene copy number variations in breast cancer of Sub-Saharan African women

Ly, Madani; Valent, Alexander; Diallo, G.; Penault-Lorca, Frédérique; Dumke, K; Marty, Virginie; Viehl, P.; Lazar, Vladimir; Job, Bastien; Richon, Catherine; Scott, Véronique; Diallo, Dapa A.; Bernaudin, Jean-François; Varga, Andrea

doi:10.1016/j.breast.2012.07.010

Cited by 13 publications

(15 citation statements)

References 19 publications

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“…Breast cancer mortality rate is much higher among sub-Saharan women as compared to women in western countries, even though the incidence is much higher in western women [17] [18]. Five-year relative survival rates, standardised to the International Cancer Survival Standard [19], were calculated for patients aged 15 -99 years diagnosed during the year 1990-1994.…”

Section: Introductionmentioning

confidence: 99%

Survival Outcomes of Breast Cancer in Ghana: An Analysis of Clinicopathological Features

Mensah¹,

Yarney²,

Nokoe³

et al. 2016

OALib

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Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer death in female's worldwide. Its incidence is on the ascendancy in Africa including Ghana. In addition, Ghanaian women are more likely to be diagnosed with high-grade tumours that are triple negative breast tumours. The objectives of the study were to investigate the clinicopathologic features of breast cancer in Ghanaian women; identify and describe breast cancer survival pattern in Ghana and factors that explain the disparity in survival rates for breast cancer by the use of Cox proportional hazard. Two thousand three hundred and ninety seven (2397) women were sampled for the study from the Korle-Bu Teaching Hospital (KBTH), of which 1022 (42.64%) were diagnosed with breast cancer between the periods 1 st January 2002 to 31 st December 2008. The cases were followed up to January 2011. It was found that Mean age for the cases was 47.97 years. The largest number of cases being 59.69% was aged 40 -49 years. Invasive Ductal Carcinoma (IDC) was 72.90%, 71.28% had lump size of 2-5 cm. Axillary lymph node involvement was found in 90% of the women diagnosed with breast cancer. 5-year cumulative survival was 91.94% for stage 0&I and 15.09% for stage IV. Data relating to tumour grading were 92.07% for high grade 2 and 3. Triple negative breast cancer was identified in 66.38% (77 out of 116) of the cases with complete information on Estrogen Receptor, Progesterone Receptor and HER2 status. Cumulative 5-year survival was 47.91. Survival rate was better for early staged presentation; lymph node involvement of less than 25% and tumour size of less than 5 cm. The study reinforces the urgent need for improved screening techniques for early detection, and for an aggressive health education campaign to increase the awareness of women in Ghana about the potential risk of breast cancer and early detection by regular testing.

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Section: Introductionmentioning

confidence: 99%

Survival Outcomes of Breast Cancer in Ghana: An Analysis of Clinicopathological Features

Mensah¹,

Yarney²,

Nokoe³

et al. 2016

OALib

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“…A recent study comparing breast cancer samples from African and American women has identified 6 chromosomal regions with a higher rate of CNAs and several candidate biomarkers that could be specific to African women [66]. …”

Section: Introductionmentioning

confidence: 99%

Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine

Zhang

et al. 2014

Biomark Res

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Extensive studies of the genetic aberrations related to human diseases conducted over the last two decades have identified recurrent genomic abnormalities as potential driving factors underlying a variety of cancers. Over the time, a series of cutting-edge high-throughput genetic tests, such as microarrays and next-generation sequencing, have been developed and incorporated into routine clinical practice. Although it is a classical low-throughput cytogenetic test, fluorescence in situ hybridization (FISH) does not show signs of fading; on the contrary, it plays an increasingly important role in detecting specific biomarkers in solid and hematologic neoplasms and has therefore become an indispensable part of the rapidly developing field of personalized medicine. In this article, we have summarized the recent advances in FISH application for both de novo discovery and routine detection of chromosomal rearrangements, amplifications, and deletions that are associated with the pathogenesis of various hematopoietic and non-hematopoietic malignancies. In addition, we have reviewed the recent developments in FISH methodology as well.

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“…The majority of the studies assessing these alterations, in addition to their gene and epigenetic expression profiles, are in White European and African American patients with breast cancer (35,(40)(41)(42)(43)(44)(45). Few studies have been performed in patients from Sub-Saharan countries (24,25). Thus, the consequences of CNAs due to the genetic instability of their tumor types remain largely unknown.…”

Section: Discussionmentioning

confidence: 99%

“…Among the African countries, SA has the highest number of published genomic research studies (assessed between 2004-2013), however only 6.1% of these studies are associated with cancer (20). To the best of our knowledge, few breast cancer studies have characterized patient genomic profiles and/or specific molecular alterations in their populations (14,(21)(22)(23)(24)(25). As a consequence, there is limited knowledge on their tumor biology and the corresponding lack of clinically relevant biomarkers that would be particularly beneficial for the prognosis and treatment of patients with breast cancer representative of the diverse racial groups of SA.…”

Section: Patterns Of Copy Number Alterations In Primary Breastmentioning

confidence: 99%

Patterns of copy number alterations in primary breast tumors of South African patients and their impact on functional cellular pathways

et al. 2018

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Breast cancer is the most common and the leading cause of female mortality among South African (SA) women. Several non-biological and biological risk factors may be attributed to their observed high mortality rate; however, the molecular profiles associated with their breast tumors are poorly characterized. The present study examined the patterns of genome-wide copy number alterations (CNAs) and their potential impact on functional cellular pathways targeted by cancer driver genes in patients with breast cancer from the Western Cape region of SA. Array-comparative genomic hybridization analysis, performed in 28 cases of invasive breast cancer, revealed a mean number of 8.68±6.18 CNAs per case, affecting primarily the Xp22.3 and 6p21-p25 cytobands (57.14% of the cases), followed by 19p13.3-p13.11 (35.7%), 2p25.3-p24.3, 4p16.3-p15.3, 8q11.1-q24.3 and 16 p13.3-p11.2 (32.14%). Functional enrichment analysis of genes and microRNA targets mapped in these affected cytobands revealed critical cancer-associated pathways, including fatty acid biosynthesis and metabolism, extracellular matrix-receptor interaction, hippo and tumor protein p53 signaling pathways, which are regulated by known cancer genes, including CCND1, CDKN1A, MAPK1, MDM2, TP53 and SMAD2. An inverse correlation was observed among the number of CNAs and tumor size and grade; CNAs on the 4p and 6p cytobands were also inversely correlated with tumor grade. No association was observed in the number of CNAs and/or the affected cytobands and the different ethnic groups of the SA patients, indicating that their tumor genome is affected by CNAs, irrespectively of their genetic descent. Additional genomic tumor profiling in SA and other Sub-Saharan African patients with breast cancer is required to determine the associations of the CNAs observed with prognosis and clinical outcome.

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Gene copy number variations in breast cancer of Sub-Saharan African women

Cited by 13 publications

References 19 publications

Survival Outcomes of Breast Cancer in Ghana: An Analysis of Clinicopathological Features

Survival Outcomes of Breast Cancer in Ghana: An Analysis of Clinicopathological Features

Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine

Patterns of copy number alterations in primary breast tumors of South African patients and their impact on functional cellular pathways

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