Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and/or ovarian cancer

Fourati, Asma; Louchez, M M; Fournier, Joëlle; Gamoudi, Amor; Rahal, Khaled; May, M. El; May, Ahmed El; Révillion, Françoise; Peyrat, Jean‐Philippe

doi:10.1684/bdc.2014.2049

Cited by 33 publications

(53 citation statements)

References 21 publications

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“…6448dupTAc. 7934delGFounder-c.5946delTC.8162delGSchoeman M, et al 2013 [58]c.5999del4c.6174delTc.582G > AFrancies FZ, et al 2015 [59]c.5771_5774delTTCAc.5213_5216delCTTAc.8754 + 1G > Ac.9097_9098insAc.4798_4800delAATc.7712A > Gc.9875C > Tc.7934delG founderfounderAfrikaner population of South Africa Seymour HJ, et al2016 [60]c.6621delASouth Africac.6761_6762delTTc.5073dupAMoroccoLAARABI FZ, et al2011 [61]c.3381delT Tazzite A, et al 2012 [62]c.7110delAc.7235insGc.517-1G > Ac.6428 C > A Guaoua S, et al2014 [63]c.745-1G > A Jouhadi H, et al2016 [64]c.5682insATunisia Troudi W, et al 2007 [65]c.1309del4c.-25G > Ac.6301 A > Cc.1595 A > Tc.7242 A > Gc.865 A > Gc.1310_1313del (1538delAAGA) Fourati A, et al 2014 [66]c.-26G > A …”

Section: Discussionmentioning

confidence: 99%

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

et al. 2017

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BackgroundBreast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations.MethodsThe study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC. In this study a specific region of BRCA2 exon 11 was targeted using PCR and DNA sequencing.ResultsEarly onset cases 25/45 (55.6%) were premenopausal women with a mean age of 36.6 years. Multiparity was more frequent within the study amounting to 30 cases (66.6%), with a mean parity of 4.1. Ductal type tumor was the predominant type detected in 22 cases (48.8%) among the reported histotypes. A heterozygous monoallelic nonsense mutation at nucleotide 3385 was found in four patients out of 9, where TTA codon was converted into the stop codon TGA.ConclusionThis study detected a monoallelic nonsense mutation in four Sudanese female patients diagnosed with early onset BC from different families. Further work is needed to demonstrate its usefulness in screening of BC.

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Section: Discussionmentioning

confidence: 99%

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

et al. 2017

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“…Because BRCA1 plays a crucial role in maintaining genome stability, the mutation of BRCA1 is associated with increased genomic instability in cells, which consequently accelerates the mutation rate of the other critical genes. Inherited BRCA1 germline mutation is revealed as a genetic susceptibility leading to high risk of breast and ovarian cancers [38]. Although BRCA1 gene mutations are rare in breast and/or ovarian cancers, BRCA1 protein expression is often decreased in sporadic cancer specimens.…”

Section: Characteristics Of P53 Pten and Brca1mentioning

confidence: 99%

Cell Cycle Regulation via the p53, PTEN, and BRCA1 Tumor Suppressors

Minami¹,

Murai²,

Nakanishi³

et al. 2016

New Aspects in Molecular and Cellular Mechanisms of Human Carcinogenesis

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“…

Breast cancer is a genetic disease but the known genes explain a minority of cases. [9][10][11] In this study, we performed exome sequencing of germline DNA from six BRCA1 and BRCA2 mutation-negative Tunisian patients with familial breast cancer to uncover additional susceptibility genes. Subsequent genotyping detected the 19-bp deletion in additional 5 out of 153 (3%) breast cancer patients but in none of 400 female controls (p 5 0.0015).

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mentioning

confidence: 99%

“…Because these pathways are complex and involve networks of hundreds of proteins, several more susceptibility genes are likely to exist. [9][10][11] In this study, we performed exome sequencing of germline DNA from six BRCA1 and BRCA2 mutation-negative Tunisian patients with familial breast cancer to uncover additional susceptibility genes. 1,7 In Tunisia, the incidence of breast cancer has increased over the past years and now accounts for some 30% of all female cancers.…”

mentioning

confidence: 99%

“…8 Founder mutations in BRCA1 and BRCA2 have been detected in about 25% of familial breast cancer patients but the majority of familial cases have remained unexplained. [9][10][11] In this study, we performed exome sequencing of germline DNA from six BRCA1 and BRCA2 mutation-negative Tunisian patients with familial breast cancer to uncover additional susceptibility genes. A novel c.1067_1086del19 mutation in RCC1 was further genotyped in a breast cancer case-control association study.…”

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confidence: 99%

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Exome sequencing and case–control analyses identify RCC1 as a candidate breast cancer susceptibility gene

Riahi

Radmanesh

Schürmann

et al. 2018

Intl Journal of Cancer

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Breast cancer is a genetic disease but the known genes explain a minority of cases. To elucidate the molecular basis of breast cancer in the Tunisian population, we performed exome sequencing on six BRCA1/BRCA2 mutation-negative patients with familial breast cancer and identified a novel frameshift mutation in RCC1, encoding the Regulator of Chromosome Condensation 1. Subsequent genotyping detected the 19-bp deletion in additional 5 out of 153 (3%) breast cancer patients but in none of 400 female controls (p = 0.0015). The deletion was enriched in patients with a positive family history (5%, p = 0.0009) and co-segregated with breast cancer in the initial pedigree. The mutant allele was lost in 4/6 breast tumors from mutation carriers which may be consistent with the hypothesis that RCC1 dysfunction provides a selective disadvantage at the stage of tumor progression. In summary, we propose RCC1 as a likely breast cancer susceptibility gene in the Tunisian population.

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Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and/or ovarian cancer

Cited by 33 publications

References 21 publications

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

Cell Cycle Regulation via the p53, PTEN, and BRCA1 Tumor Suppressors

Exome sequencing and case–control analyses identify RCC1 as a candidate breast cancer susceptibility gene

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