Mutation Analysis of a Mauritian Hereditary Breast Cancer Family Reveals the &lt;i&gt;BRCA2&lt;/i&gt; 6503delTT Mutation Previously Found to Recur in Different Ethnic Populations

Khittoo, Govindranathsing; Manning, Andrew; Mustun, H.; Appadoo, Jayshree; Venkatasamy, Shadila; Fagoonee, Indurlall; Ghadirian, Parviz; Tonin, Patricia N.

doi:10.1159/000053354

Cited by 4 publications

(2 citation statements)

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“…Another novel founder, BRCA2 mutation, was identified by var der Merwe et al ( 53 ) in the Bantu-speaking Xhosa population (South Africa). Other studies have identified new BRCA mutations and their contribution to early-onset and sporadic breast and/or ovarian cancer in Arabic speaking countries ( 57 ) of Egypt ( 58 ), Tunisia ( 51 , 59 – 66 ), Algeria ( 67 – 69 ), Morocco ( 70 – 72 ), and Sudan ( 73 , 74 ), in addition to Senegal ( 75 ), Mauritius ( 76 ) and South Africa ( 50 , 77 – 79 ) in the Sub-Saharan region.…”

Section: Resultsmentioning

confidence: 99%

A Review of Cancer Genetics and Genomics Studies in Africa

Rotimi

Salhia

2021

Front. Oncol.

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Cancer is the second leading cause of death globally and is projected to overtake infectious disease as the leading cause of mortality in Africa within the next two decades. Cancer is a group of genomic diseases that presents with intra- and inter-population unique phenotypes, with Black populations having the burden of morbidity and mortality for most types. At large, the prevention and treatment of cancers have been propelled by the understanding of the genetic make-up of the disease of mostly non-African populations. By the same token, there is a wide knowledge gap in understanding the underlying genetic causes of, and genomic alterations associated with, cancer among black Africans. Accordingly, we performed a review of the literature to survey existing studies on cancer genetics/genomics and curated findings pertaining to publications across multiple cancer types conducted on African populations. We used PubMed MeSH terms to retrieve the relevant publications from 1990 to December 2019. The metadata of these publications were extracted using R text mining packages: RISmed and Pubmed.mineR. The data showed that only 0.329% of cancer publications globally were on Africa, and only 0.016% were on cancer genetics/genomics from Africa. Although the most prevalent cancers in Africa are cancers of the breast, cervix, uterus, and prostate, publications representing breast, colorectal, liver, and blood cancers were the most frequent in our review. The most frequently reported cancer genes were BRCA1, BRCA2, and TP53. Next, the genes reported in the reviewed publications’ abstracts were extracted and annotated into three gene ontology classes. Genes in the cellular component class were mostly associated with cell part and organelle part, while those in biological process and molecular function classes were mainly associated with cell process, biological regulation, and binding, and catalytic activity, respectively. Overall, this review highlights the paucity of research on cancer genomics on African populations, identified gaps, and discussed the need for concerted efforts to encourage more research on cancer genomics in Africa.

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Section: Resultsmentioning

confidence: 99%

A Review of Cancer Genetics and Genomics Studies in Africa

Rotimi

Salhia

2021

Front. Oncol.

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“…Cancer result partly from genetic components and genomics is imperative for screening, investigation, risk stratification and targeted therapeutics. The only study published in Mauritius on breast cancer genetics showed a mutation in the BRCA2 6503delTT in two sisters of the same family of Indian origin ( Khittoo et al, 2001 ). The fact that 25% of the breast cancer identified are in women under the age of 50 points towards a strong genetic predisposition.…”

Section: Precision Medicine Scope and Promisesmentioning

confidence: 99%

Population Structure of the South West Indian Ocean Islands: Implications for Precision Medicine

et al. 2021

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Precision medicine has brought new hopes for patients around the world with the applications of novel technologies for understanding genetics of complex diseases and their translation into clinical services. Such applications however require a foundation of skills, knowledge and infrastructure to translate genetics for health care. The crucial element is no doubt the availability of genomics data for the target populations, which is seriously lacking for most parts of Africa. We discuss here why it is vital to prioritize genomics data for the South West Indian Ocean region where a mosaic of ethnicities co-exist. The islands of the SWIO, which comprise Madagascar, La Reunion, Mauritius, Seychelles and Comoros, have been the scene for major explorations and trade since the 17th century being on the route to Asia. This part of the world has lived through active passage of slaves from East Africa to Arabia and further. Today’s demography of the islands is a diverse mix of ancestries including European, African and Asian. The extent of admixtures has yet to be resolved. Except for a few studies in Madagascar, there is very little published data on human genetics for these countries. Isolation and small population sizes have likely resulted in reduced genetic variation and possible founder effects. There is a significant prevalence of diabetes, particularly in individuals of Indian descent, while breast and prostate cancers are on the rise. The island of La Reunion is a French overseas territory with a high standard of health care and close ties to Mauritius. Its demography is comparable to that of Mauritius but with a predominantly mixed population and a smaller proportion of people of Indian descent. On the other hand, Madagascar’s African descendants inhabit mostly the lower coastal zones of the West and South regions, while the upper highlands are occupied by peoples of mixed African-Indonesian ancestries. Historical records confirm the Austronesian contribution to the Madagascar genomes. With the rapid progress in genomic medicine, there is a growing demand for sequencing services in the clinical settings to explore the incidence of variants in candidate disease genes and other markers. Genome sequence data has become a priority in order to understand the population sub-structures and to identify specific pathogenic variants among the different groups of inhabitants on the islands. Genomic data is increasingly being used to advise families at risk and propose diagnostic screening measures to enhance the success of therapies. This paper discusses the complexity of the islands’ populations and argues for the needs for genotyping and understanding the genetic factors associated with disease risks. The benefits to patients and improvement in health services through a concerted regional effort are depicted. Some private patients are having recourse to external facilities for molecular profiling with no return of data for research. Evidence of disease variants through sequencing represents a valuable source of medical data that can guide policy decisions at the national level. There are presently no such records for future implementation of strategies for genomic medicine.

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Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations

Oros

Ghadirian

Greenwood

et al. 2004

Intl Journal of Cancer

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103

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In 1998, we reported that a significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor specific germline mutations in BRCA1 or BRCA2 attributed to common founders. Here we report the frequency of previously described mutations (n ‫؍‬ 7) and 13 mutations identified in French Canadian families since 1998, in a new group of families (n ‫؍‬ 88). Four of the previously described mutations, 4446C>T, 2953delGTAinsC, 8765delAG and 6085C>T, account for 72% and 69% of mutation-positive families in previously (n ‫؍‬ 81) and recently ascertained groups, respectively. Only 2 of 13 recently identified mutations were found in more than 1 family: 3875delGTCT (n ‫؍‬ 2) and 3398delAAAAG (n ‫؍‬ 4). The 2 groups (ascertained pre-and post-gene discovery) did not differ significantly when distribution of mutations based on cancer syndrome phenotype and age of diagnosis or number of breast cancer cases were compared. Five common mutations accounted for a significant proportion (84%) of all mutationpositive families. The age of diagnosis of female breast cancer in mutation-negative families was significantly higher than that of the mutation-positive families (p<0.0001). The total number of cases of cancer per family was significantly lower in mutation-negative than mutation-positive families (p<0.001). Our results define a new mutation panel for screening BRCA1/2 mutations and the phenotype of mutation-positive families harboring the common mutations in the French Canadian population. © 2004 Wiley-Liss, Inc. Key words: BRCA1; BRCA2; French Canadian; founder mutationIn 1998, our group was the first to report that a significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor specific mutations in BRCA1 and BRCA2 1 genes that confer a significantly increased lifetime risk of developing both breast cancer and ovarian cancer. [2][3][4][5] In the initial study that comprised 97 hereditary breast cancer (HBC) and hereditary breast and ovarian cancer (HBOC) families screened for only 4 specific variations in each gene, the BRCA1 4446CϾT and BRCA2 8765delAG mutations accounted for 68% (28 of 41) of mutation-positive families. 1 The BRCA1 2953delGTAinsC and 3768insA mutations, and BRCA2 2816insA and 6085GϾT mutations, were also identified more than once in independently ascertained families and were observed at similar frequencies, accounting for 4 to 10% of mutation-positive families. Although only specific mutations were screened in this analysis, the overall proportion of mutation-positive families was consistent with those observed in other reports in the general population where a comprehensive analysis of BRCA1 and/or BRCA2 was conducted. 6 -11

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Mutation Analysis of a Mauritian Hereditary Breast Cancer Family Reveals the <i>BRCA2</i> 6503delTT Mutation Previously Found to Recur in Different Ethnic Populations

Cited by 4 publications

References 14 publications

A Review of Cancer Genetics and Genomics Studies in Africa

A Review of Cancer Genetics and Genomics Studies in Africa

Population Structure of the South West Indian Ocean Islands: Implications for Precision Medicine

Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations

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