BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report

Mehemmai, Chiraz; Cherbal, Farid; Hamdi, Yosr; Guedioura, Abdelmoumene; Benbrahim, Wassila; Bakour, Rabah; Abdelhak, Sonia

doi:10.1007/s12253-019-00586-4

Cited by 16 publications

(18 citation statements)

References 32 publications

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“…The search of the databases yielded 25 relevant references which are closely related to defining the inclusion criteria and was included in this review. The retrieved articles describe studies conducted in Morocco (n=11) [ 8 – 18 ], Algeria (n=5) [ 19 – 23 ], and Tunisia (n=9) [ 24 – 32 ]. Overall, 15 studies investigated both BRCA1 and BRCA2 genes [ 8 , 9 , 12 , 15 – 18 , 20 – 22 , 25 – 27 , 29 , 31 , 32 ], four studies examined the entire coding regions of the BRCA1 gene [ 10 , 19 , 24 , 30 ], and six studies in which the analysis was restricted to a few BRCA1 and/or BRCA2 exons [ 11 , 13 , 14 , 23 , 28 ].…”

Section: Resultsmentioning

confidence: 99%

“… 15 ? - 2 Algeria 1 BOC,1 BC Familial [ 23 ] c.5030_5033delCTAA 15 NS p.Thr1677Ilefs2 3 Tunisia 1 BOC,2 OC Familial [ 32 ] c.4823C>G 16 NS p.Ser1608Ter 1 Morocco BC Familial [ 15 ] c.4942A>T 16 NS p.Lys1648X 1 Morocco BC Sporadic [ 10 ] c.5062_5064delGTT 17 FS p.Val1688del 1 Morocco BC Familial [ 9 ] c.5117G>C 18 MS p.Gly1706Ala 1 Algeria BC Familial [ 22 ] c.5158C>T 18 MS p.Arg1720Trp 1 Morocco BC Familial [ 15 ] c.5266dupC 20 FS p.Gln1756Profs 11 Tunisia 9 BC, 2 BOC Familial [ 24 – 28 , 30 ] c.5309G>T 20 MS p.Gly1770Val 10 Morocco 9BC,1 OC, 8 Familial 2 Sporadic [ 13 , …”

Section: Resultsmentioning

confidence: 99%

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Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

et al. 2022

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Background Elucidation of specific and recurrent/founder pathogenic variants (PVs) in BRCA (BRCA1 and BRCA2) genes can make the genetic testing, for breast cancer (BC) and/or ovarian cancer (OC), affordable for developing nations. Methods To establish the knowledge about BRCA PVs and to determine the prevalence of the specific and recurrent/founder variants in BRCA genes in BC and/or OC women in North Africa, a systematic review was conducted in Morocco, Algeria, and Tunisia. Results Search of the databases yielded 25 relevant references, including eleven studies in Morocco, five in Algeria, and nine in Tunisia. Overall, 15 studies investigated both BRCA1 and BRCA2 genes, four studies examined the entire coding region of the BRCA1 gene, and six studies in which the analysis was limited to a few BRCA1 and/or BRCA2 exons. Overall, 76 PVs (44 in BRCA1 and32 in BRCA2) were identified in 196 BC and/or OC patients (129 BRCA1 and 67 BRCA2 carriers). Eighteen of the 76 (23.7%) PVs [10/44 (22.7%) in BRCA1 and 8/32 (25%) in BRCA2] were reported for the first time and considered to be novel PVs. Among those identified as unlikely to be of North African origin, the BRCA1 c.68_69del and BRCA1 c.5266dupC Jewish founder alleles and PVs that have been reported as recurrent/founder variants in European populations (ex: BRCA1 c.181T>G, BRCA1 c1016dupA). The most well characterized PVs are four in BRCA1 gene [c.211dupA (14.7%), c.798_799detTT (14%), c.5266dup (8.5%), c.5309G>T (7.8%), c.3279delC (4.7%)] and one in BRCA2 [c.1310_1313detAAGA (38.9%)]. The c.211dupA and c.5309G>T PVs were identified as specific founder variants in Tunisia and Morocco, accounting for 35.2% (19/54) and 20.4% (10/49) of total established BRCA1 PVs, respectively. c.798_799delTT variant was identified in 14% (18/129) of all BRCA1 North African carriers, suggesting a founder allele. A broad spectrum of recurrent variants including BRCA1 3279delC, BRCA1 c.5266dup and BRCA2 c.1310_1313detAAGA was detected in 42 patients. BRCA1 founder variants explain around 36.4% (47/129) of BC and outnumber BRCA2 founder variants by a ratio of ≈3:1. Conclusions Testing BC and/or OC patients for the panel of specific and recurrent/founder PVs might be the most cost-effective molecular diagnosis strategy.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

et al. 2022

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“…Additional studies on BRCA genes have expanded to identifying the population-based mutation frequency and screening/genetic testing in the Democratic Republic of the Congo ( 80 ), Morocco ( 81 ), Tunisia ( 82 , 83 ), Algeria ( 84 , 85 ), familial studies in Morocco ( 86 , 87 ), and large genomic rearrangement in Egypt ( 88 , 89 ). Of these, the contribution of BRCA mutations to male breast cancer was reported only in the Moroccan study by Guaoua et al ( 86 ).…”

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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“…The search of the databases yielded 25 relevant references which are closely related to de ning the inclusion criteria and was included in this review. The retrieved articles describe studies conducted in Morocco (n = 11) [9][10][11][12][13][14][15][16][17][18][19], Algeria (n = 5) [20][21][22][23][24], and Tunisia (n = 9) [25][26][27][28][29][30][31][32][33]. Overall, 15 studies investigated both BRCA1 and BRCA2 genes [9, 10, 13, 16-19, 21-23, 25, 28, 30-33], four studies examined the entire coding regions of the BRCA1 gene [11,20,26,27], and six studies in which the analysis was restricted to a few BRCA1 and/or BRCA2 exons [12,14,15,24,29].…”

Section: Resultsmentioning

confidence: 99%

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

ElBiad¹,

Laraqui²,

Boukhrissi³

et al. 2021

Preprint

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Background Elucidation of specific and recurrent/founder pathogenic variants (PVs) in BRCA (BRCA1 and BRCA2) genes can have an impact on breast cancer (BC) and/or ovarian cancer (OC) risk, making genetic testing affordable and accessible. Methods To establish the knowledge about BRCA PVs and to determine the prevalence of the specific and recurrent/founder variants in BRCA genes in BC and/or OC women in North Africa, a systematic review was conducted in Morocco, Algeria, and Tunisia. Results Search of the databases yielded 25 relevant references, including eleven studies in Morocco, five in Algeria, and nine in Tunisia. Overall, 15 studies investigated both BRCA1 and BRCA2 genes, four studies examined the entire coding region of the BRCA1 gene, and six studies in which the analysis was limited to a few BRCA1 and/or BRCA2 exons. Overall, 76 PVs (44 in BRCA1 and 32 in BRCA2) were identified in 196 BC and/or OC patients (129 BRCA1 and 67 BRCA2 carriers). Eighteen of the 76 (23.7%) PVs [10/44 (22.7%) in BRCA1 and 8/32 (25%) in BRCA2] were reported for the first time and considered to be novel PVs. Among those identified as unlikely to be of North African origin, the BRCA1 c.68_69del and BRCA1 c.5266dupC Jewish founder alleles and PVs that have been reported as recurrent/founder variants in European populations (ex: BRCA1 c.181T > G, BRCA1 c1016dupA). The most well characterized PVs are four in BRCA1 gene [c.211dupA (14.7%), c.798_799detTT (14%), c.5266dup (8.5%), c.5309G > T (7.8%), c.3279delC (4.7%)] and one in BRCA2 [c.1310_1313detAAGA (38.9%)]. The c.211dupA and c.5309G > T PVs were identified as specific founder variants in Tunisia and Morocco, accounting for 35.2% (19/54) and 20.4% (10/49) of total established BRCA1 PVs, respectively. c.798_799delTT variant was identified in 14% (18/129) of all BRCA1 North African carriers, suggesting a founder allele. A broad spectrum of recurrent variants including BRCA1 3279delC, BRCA1 c.5266dup and BRCA2 c.1310_1313detAAGA was detected in 42 patients. BRCA1 founder variants explain around 36.4% (47/129) of BC and outnumber BRCA2 founder variants by a ratio of ≈ 3:1. Conclusion Testing BC and/or OC patients for the panel of specific and recurrent/founder PVs might be the most cost-effective molecular diagnosis strategy.

show abstract

BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report

Cited by 16 publications

References 32 publications

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

A Review of Cancer Genetics and Genomics Studies in Africa

Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa

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