Dataset Information

Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

ABSTRACT:

Background and study aim

Carrying a pathogenic BRCA1/2 variant increases greatly young women's risk of developing breast cancer (BC). This study aimed to provide the first genetic data on BC in Mauritania.

Methods

Using NGS based screening; we searched for BRCA1/2 variants in DNA samples from 137 patients diagnosed for hereditary BC.

Results

We identified 16 pathogenic or likely pathogenic (PV) variants carried by 38 patients. Two predominant BRCA1 PV variants were found: c.815_824dup and c.4986 + 6 T > C in 13 and 7 patients, respectively. Interestingly, three novels BRCA1/2 predicted pathogenic variants have also been detected. Notably, no specific distribution of BRCA1/2 variants was observed regarding triple negative breast cancer (TNBC) or patient gender status.

Conclusions

In this first genetic profiling of BC in Mauritania, we identified a substantial number of BRCA1/2 pathogenic variants. This finding could be important in the future diagnosis and prevention policy of hereditary BC in Mauritania.

SUBMITTER: Brahim SM

PROVIDER: S-EPMC9301826 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature

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Publications

Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Brahim Selma Mohamed SM Zein Ekht Elbenina EE Bonnet Crystel C Hamed Cheikh Tijani CT Salame Malak M Zein Mohamed Vall MV Khyatti Meriem M Tolba Ahmedou A Houmeida Ahmed A

BMC cancer 20220720 1

<h4>Background and study aim</h4>Carrying a pathogenic BRCA1/2 variant increases greatly young women's risk of developing breast cancer (BC). This study aimed to provide the first genetic data on BC in Mauritania.<h4>Methods</h4>Using NGS based screening; we searched for BRCA1/2 variants in DNA samples from 137 patients diagnosed for hereditary BC.<h4>Results</h4>We identified 16 pathogenic or likely pathogenic (PV) variants carried by 38 patients. Two predominant BRCA1 PV variants were found: c ...[more]

PMID: 35858847

Similar Datasets

Project description:BackgroundThe prevalence of BRCA1/2 variants in Chinese breast cancer patients varies among studies. Germline or somatic BRCA1/2 mutations are associated with sensitivity to poly(ADP-ribose) polymerase-1 inhibitors and DNA-damaging agents. We aimed to investigate the distribution of both somatic and germline BRCA1/2 variants in unselected Chinese breast cancer patients, and explore their roles in tumor phenotype and disease prognosis.Methods507 breast cancer patients, unselected for family history of breast cancer or age at diagnosis, were prospectively enrolled from West China Hospital between Feb. 2008 and Feb. 2014. BRCA1/2 variants in the exons/flanking regions were detected in fresh-frozen tumors using next-generation sequencing and confirmed by independent methods. Germline/somatic status was validated by Sanger sequencing in paired blood/normal tissue.ResultsBRCA1/2 pathogenic or likely pathogenic (P/LP) variants were detected in 50 patients (9.9%), including 40 germline carriers (18 in BRCA1, 22 in BRCA2), 9 patients with somatic variants (3 in BRCA1, 6 in BRCA2), and 1 patient with concurrent germline/somatic variants in BRCA2. The triple-negative (21.4%) and Luminal B (9.7%) subtypes had higher rates of BRCA1/2 variants. In patients with disease stage 0~II, presence of a germline or somatic BRCA1 P/LP variant increased the risk of relapse as compared to non-carriers [univariate hazard ratio (HR): 3.70, P = 0.04]. Germline BRCA1 P/LP variants, which were associated with aggressive tumor phenotypes, predicted worse disease-free survival in the subgroup of stage 0~II (HR: 4.52, P = 0.02) and N0 (HR: 5.4, P = 0.04) compared to non-carriers.ConclusionA high frequency of germline and somatic BRCA1/2 P/LP variants was detected in unselected Chinese breast cancer patients. Luminal B subtype should be considered as a high-risk population of BRCA1/2 mutation, in addition to triple-negative breast cancer. BRCA1 status was associated with aggressive tumor phenotype and worse disease progression in early stage breast cancer patients.

Dataset Information

Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Background and study aim

Methods

Results

Conclusions

Publications

Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Similar Datasets

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