Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families

Pietschmann, Andrea; Mehdipour, Parvin; Atri, Morteza; Hofmann, Wera; Hosseini-Asl, S. Said; Scherneck, Siegfried; Mundlos, Stefan; Peters, Hartmut

doi:10.1007/s00432-005-0678-8

Cited by 35 publications

(32 citation statements)

References 18 publications

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“…16,[21][22][23][24][25] The first published studies reported two variants: c.*36C4G, identified while screening 211 breast cancer cases, 22 and c.*372_387del16 while screening 78 breast cancer cases belonging to high-risk breast and ovarian cancer families. 25 Pietschmann et al screened BRCA1/BRCA2 coding sequences and 5ʹ-and 3ʹ-UTRs in 10 Iranian high-risk breast cancer families.…”

Section: Discussionmentioning

confidence: 99%

“…25 Pietschmann et al screened BRCA1/BRCA2 coding sequences and 5ʹ-and 3ʹ-UTRs in 10 Iranian high-risk breast cancer families. 23 They identified one rare variant in BRCA1 3ʹ-UTR, c. *381_389del9ins29, which was not considered as causal as it was not present in the other four breast cancer cases in the family of the proband. Lheureux et al identified two novel rare variants, c. *750A4G and c.*1286C4A in 70 BRCA1/2-negative high-risk breast or ovarian cancer cases, with clear evidence of neutrality for the former and little evidence of causality for the latter based on luciferase reporter assays and bioinformatics predictions.…”

Section: Discussionmentioning

confidence: 99%

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Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

et al. 2016

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Although a wide number of breast cancer susceptibility alleles associated with various levels of risk have been identified to date, about 50% of the heritability is still missing. Although the major BRCA1 and BRCA2 genes are being extensively screened for truncating and missense variants in breast and/or ovarian cancer families, potential regulatory variants affecting their expression remain largely unexplored. In an attempt to identify such variants, we focused our attention on gene regulation mediated by microRNAs (miRs). We screened two genes, MIR146A and MIR146B, producing miR-146a and miR-146b-5p, respectively, that regulate BRCA1, and the 3ʹ-untranslated regions (3ʹ-UTRs) of BRCA1 and BRCA2 in the GENESIS French national case/control study (BRCA1-and BRCA2-negative breast cancer cases with at least one sister with breast cancer and matched controls). We identified one rare variant in MIR146A, four in MIR146B, five in BRCA1 3ʹ-UTR and one in BRCA2 3ʹ-UTR in 716 index cases and 619 controls. Among these 11 rare variants, 7 were identified each in 1 index case. None of the three relevant MIR146A/MIR146B variants affected the pre-miR sequences. The potential causality of the four relevant BRCA1/BRCA2 3ʹ-UTRs variants was evaluated with luciferase reporter assays and co-segregation studies, as well as with bioinformatics analyses to predict miRs-binding sites, RNA secondary structures and RNA accessibility. This is the first study to report the screening of miR genes and of BRCA2 3ʹ-UTR in a large series of familial breast cancer cases. None of the variant identified in this study gave convincing evidence of potential pathogenicity.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Mutation screening of MIR146A/B and BRCA1/2 3′-UTRs in the GENESIS study

et al. 2016

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“…0 -UTRs play an essential role in regulating the stability, subcellular localization, and translation of corresponding mRNAs via sequence-specific interactions with trans-acting factors, including small RNAs and proteins (22). Several 3 0 -UTR point mutations have been linked to the risk of developing cancer in humans (23)(24)(25)(26)(27)(28). Recent reports have shown that contractions at 3 0 -UTR mononucleotide repeats can exert deleterious effects by destabilizing the respective mRNAs associated with them and thereby be of direct pathophysiologic relevance (29,30).…”

Section: Discussionmentioning

confidence: 99%

3′-UTR Poly(T/U) Tract Deletions and Altered Expression of EWSR1 Are a Hallmark of Mismatch Repair–Deficient Cancers

et al. 2014

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The genome-wide accumulation of DNA replication errors known as microsatellite instability (MSI) is the hallmark lesion of DNA mismatch repair (MMR)-deficient cancers. Although testing for MSI is widely used to guide clinical management, the contribution of MSI at distinct genic loci to the phenotype remains largely unexplored. Here, we report that a mononucleotide (T/U) 16 tract located in the 3 0 untranslated region (3 0 -UTR) of the Ewing sarcoma breakpoint region 1 (EWSR1) gene is a novel MSI target locus that shows perfect sensitivity and specificity in detecting mismatch repair-deficient cancers in two independent populations. We further found a striking relocalization of the EWSR1 protein from nucleus to cytoplasm in MMR-deficient cancers and that the nonprotein-coding MSI target locus itself has a modulatory effect on EWSR1 gene expression through alternative 3 0 end processing of the EWSR1 gene. Our results point to a MSI target gene-specific effect in MMRdeficient cancers. Cancer Res; 74(1); 224-34. Ó2013 AACR.

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“…After deduplication and exclusion of the clearly irrelevant studies, we eventually included 13 studies (Bar-Sade et al, 1998;Ghaderi et al, 2001;Yassaee et al, 2002;Moslehi et al, 2003;Pietschmann et al, 2005;Quintana-Murci et al, 2005;Mehdipour et al, 2006;Rassi et al, 2008;Fattahi et al, 2009;Saleh gohari et al, 2012and Kooshyar et al, 2013) involving 1183 breast cancer patients. Figure 1 shows the study selection process.…”

Section: Study Characteristicsmentioning

confidence: 99%