Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study

Meisel, C; Sadowski, Carolin E.; Kohlstedt, Daniela; Keller, Katja; Stäritz, F; Grübling, Nannette; Becker, Kerstin; Mackenroth, Luisa; Rump, Andreas; Arnold, Norbert; Wimberger, Pauline; Kast, Karin

doi:10.1007/s00404-017-4330-z

Cited by 19 publications

(8 citation statements)

References 49 publications

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“…This variant was documented in the 1000 Genomes project with a Reference SNP ID (rs1060915), and its frequency in Exome Sequencing Project (GO-ESP) was reported 27%. The majority of studies found this mutation as a polymorphism with low frequencies (20)(21)(22). Ghaderi et al have studied 80 patients in the central part of Iran, Fars province.…”

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confidence: 99%

Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Khalili-Tanha¹,

Sebzari

Moodi

et al. 2019

Med. J. Islam. Republ. Iran

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confidence: 99%

Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Khalili-Tanha¹,

Sebzari

Moodi

et al. 2019

Med. J. Islam. Republ. Iran

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“…However, c.1310_1313delAAGA seems to be a founder mutation in Maghrebin countries [15,16,50,51]. It has been also identi ed in patients with Lebanese [50], European [53][54][55][56], African [57], Asian [58] and Latino ancestry [59] as well as in Caribbean cohorts [60,61]. These results show the genetic heterogeneity of breast and ovarian cancers in Tunisian patients and the admixed origins of BRCA mutations in Tunisia.…”

Section: Discussionmentioning

confidence: 70%

Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers

Hamdi

Mighri

Boujemaa

et al. 2021

Preprint

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Background Breast cancer is the world's most common cancer among women. It is becoming an increasingly urgent problem in low- and middle-income countries (LMICs) where a large fraction of women is diagnosed with advanced-stage disease and have no access to treatment or basic palliative care. About 5-10% of all breast cancers can be attributed to hereditary genetic components and up to 25% of familial cases are due to mutations in BRCA1/2 genes. Since their discovery in 1994 and 1995, as few as 18 mutations have been identified in BRCA genes in the Tunisian population. The aim of this study is to identify additional BRCA mutations, to estimate their contribution to the hereditary breast and ovarian cancers in Tunisia and to investigate the clinicopathological signatures associated with BRCA mutations. Methods A total of 354 patients diagnosed with breast and ovarian cancers, including 5 male breast cancer cases, have been investigated for BRCA1/2 mutations using traditional and/or next generation sequencing technologies. Clinicopathological signatures associated with BRCA mutations have been also investigated. Results 16 distinct mutations were detected: 10 in BRCA1 and 6 in BRCA2, of which 11 are described for the first time in Tunisia including 3 variations that have not been reported previously in public databases namely BRCA1_c.915T>A; BRCA2_c.-227-?_7805+? and BRCA2_c.249delG. Early age at onset, family history of ovarian cancer and high tumor grade were significantly associated with BRCA status. BRCA1 carriers were more likely to be triple negative breast cancer compared to BRCA2 carriers. A relatively high frequency of contralateral breast cancer and ovarian cancer occurrence was observed among BRCA carriers and was more frequent in patients carrying BRCA1 mutations. Conclusion Our study provides new insights into breast and ovarian cancer genetic landscape in the under-represented North African populations. The prevalence assessment of novel and recurrent BRCA1/2 pathogenic mutations will enhance the use of personalized treatment and precise screening strategies by both affected and unaffected North African cancer cases.

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“…We ascertained 47 germline BRCA mutations in total, of which we found only three repetitive mutations each in three patients. Two of these mutations, i.e., 3x c.181T>G p.(Cys61Gly) and 3x c.1687C>T p.(Gln563 *), have been reported to be common in the Caucasian population [ 28 , 29 ]. One mutation, i.e., c.5266dupC p.(Gln1756fs) has been described to be common in the Ashkenazi Jewish population.…”

Section: Discussionmentioning

confidence: 99%

Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer

Bekos

Grimm

Kranawetter

et al. 2021

JPM

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Background: BRCA 1/2 mutation status has become one of the most important parameters for treatment decision in patients with epithelial ovarian cancer (EOC). The aim of this study was to compare tumor DNA with blood DNA sequencing to evaluate the reliability of BRCA tumor testing results. Methods: Patients who were treated for EOC between 2003 and 2019 at the Medical University of Vienna and underwent both germline (gBRCA) and tumor (tBRCA) testing for BRCA mutations were identified. We calculated the concordance rate and further analyzed discordant cases. Results: Out of 140 patients with EOC, gBRCA mutation was found in 47 (33.6%) and tBRCA mutation in 53 (37.9%) patients. Tumor testing identified an additional 9/140 (6.4%) patients with somatic BRCA mutation and negative germline testing. The comparison of germline testing with tumor testing revealed a concordance rate of 93.5% and a negative predictive value of tumor testing of 96.0%. After BRCA variants of uncertain significance were included in the analysis, concordance rate decreased to 90.9%. Conclusion: Tumor testing identified the majority of pathogenic germline BRCA mutations but missed three (2.1%) patients. In contrast, nine (6.4%) patients harboring a somatic BRCA mutation would have been missed by gBRCA testing only.

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Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study

Abstract: The two most frequently detected mutations are founder mutations in Poland and Czech Republic. More similarities seem to be shared with our direct neighbor countries compared to other European countries. For comparison of the extended genotype, a shared database is needed.

Cited by 19 publications

References 49 publications

Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Mutations analysis of BRCA1 gene in patients with breast cancer in South Khorasan province, East Iran

Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers

Reliability of Tumor Testing Compared to Germline Testing for Detecting BRCA1 and BRCA2 Mutations in Patients with Epithelial Ovarian Cancer

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