Abstract:
:Correct classification of genomic variants causing potentially aberrant splicing is of utmost importance for patient management, especially in clinically actionable genes such as BRCA1/2. In this article, we report molecular evaluation of the BRCA1 c.439T>C (rs794727800, p.Leu147=) variant based on RNA of a patient suffering with high-grade serous ovarian cancer syndrome, to add new evidence to the only in silico data available for this variant. High Resolution Melting Analysis (HRMA) was used for the first time to investigate the spliceogenicity of a BRCA1 variant. HRMA with Sanger sequencing provided evidence that the c.439C allele does not cause aberrant splicing of the BRCA1 exon 7. In addition, HRMA with Sanger highlighted a different expression of the naturally occurring BRCA1 r.442_444del (c.442_444delCAG, p.Gln148del, at DNA level) isoform between blood and tumor, in this patient. HRMA is an alternative molecular approach to analyze spliceogenic properties of the c.439T>C variant and potentially for all those BRCA1/2 variants affecting splicing sites. These new evidences allowed to classify definitively the c.439T>C variant as benign. Furthermore, the different BRCA1 r.442_444del expression opens the discussion to consider a wider classification criteria for the splicing variants, including molecular evaluation at tissue level, which is an aspect currently scarcely considered in BRCA1/2 variant classification recommendations.
journal_name
Mol Biol Repjournal_title
Molecular biology reportsauthors
Minucci A,Mazzuccato G,D'Indinosante M,Di Nardo L,Concolino P,De Bonis M,Urbani A,Scambia G,Fagotti A,Capoluongo Edoi
10.1007/s11033-019-05199-3subject
Has Abstractpub_date
2020-02-01 00:00:00pages
1513-1520issue
2eissn
0301-4851issn
1573-4978pii
10.1007/s11033-019-05199-3journal_volume
47pub_type
杂志文章abstract::The binding of a cell nucleus stain, hematoxylin (HTL), to bovine serum albumin (BSA) was studied by spectroscopy including fluorescence spectra, UV-Visible absorption, circular dichroism (CD) spectra, synchronous and three-dimensional fluorescence spectra. The results indicated that the binding had led to static fluo...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-009-9448-z
更新日期:2009-11-01 00:00:00
abstract::FK-506 binding proteins (FKBPs) belong to the peptidyl-prolyl cis/trans isomerase superfamily (PPIases, EC: 5.2.1.8) which catalyzes the interconversion of peptidyl-prolyl bonds while they can also act on polypeptides, as folding helper enzymes. Here, we biochemically characterize two recombinant FKBPs, AvfkbA1 and Av...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-012-1869-4
更新日期:2012-12-01 00:00:00
abstract::In clinical practice, most patients with non small cell lung cancer (NSCLC) who respond to tyrosine kinase inhibitors eventually progress because of an acquired resistance mutation, T790M, in epidermal growth factor receptor (EGFR). Thus, it is important to identify a new drug to reduce resistance. The aim of this stu...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-011-1293-1
更新日期:2012-04-01 00:00:00
abstract::Osteocytic potentiality of human CD34+ stem cells explored in the present study by generating in vitro agarose gel 3D model to understand the bone ossification process. The G-CSF and IL-3 mobilized human CD34+ stem cells isolated apheretically from donor peripheral blood and purity of the cells was assessed by FACS an...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-016-4053-4
更新日期:2016-11-01 00:00:00
abstract::The aim of this study is to evaluate which dysregulated angiomiRs compose the specific proangiogenic microRNA signature of advanced laryngeal cancer and review the literature. Thirty-six samples from twelve patients with advanced laryngeal carcinoma were collected. Total RNA was extracted and microRNA global profiling...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-020-05250-8
更新日期:2020-07-01 00:00:00
abstract::Adequate metabolic adaptation of key tissues playing an essential role for bioenergetic homeostasis and lactogenesis is critical in cows to adapt to changes in energy requirements and physiological processes during the lactation period. Mitochondria are recognized as central to meet energy needs and maintaining of met...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-018-4273-x
更新日期:2018-10-01 00:00:00
abstract::Common bacterial blight (CBB), incited by Xanthomonas axonopodis pv. phaseoli (Xap), is a serious seed-borne disease of common bean (Phaseolus vulgaris L.) in both temperate and tropical production zones. The line HR45 is highly resistant to Xap infection on leaves and pods in both field and greenhouse. To understand ...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-010-0079-1
更新日期:2011-01-01 00:00:00
abstract::We report here cloning and characterization of a novel human gene, termed VMP, which is a vesicular membrane protein. RT-PCR analysis shows that VMP is expressed exclusively in brain of the 16 tissues examined, suggesting that it is a neuron-specific membrane protein. The cDNA encodes 195 amino acid with a putative mo...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1023/a:1020402410522
更新日期:2002-09-01 00:00:00
abstract::Myopalladin (MYPN) and titin (TTN) play key roles in skeletal muscle structural organisation and for this reason they may be functional candidates for meat production traits in pigs. We analysed by PCR-RFLP two polymorphisms previously identified and described in the 3'UTR of MYPN and TTN genes in a group of Italian L...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-013-2812-z
更新日期:2013-12-01 00:00:00
abstract::Inflammatory cytokine, adipokine and adhesion molecules are known to play a key role in pathogenesis of diabetic kidney disease (DKD). In this study, our aim was to investigate the role of fetuin-A in relation with pro-inflammatory cytokines (IL-6, IL-18), adipokines (adiponectin, leptin), chemokine (MCP-1), and adhes...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-019-04592-2
更新日期:2019-02-01 00:00:00
abstract::'Molecular sandwiches' composed of two aromatic amino acids separated by a hydrophilic one were found on eleven subspecies of human interferon alpha, on murine interferon alpha 2, and human interferon beta 1. In addition, another type of the sandwiches was found on several species of interferon. This confirms and exte...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/BF00417593
更新日期:1986-01-01 00:00:00
abstract::Epidemiological studies found inconsistent results on the association of two variants on TGFBR1 (TGFBR1*6A and Int7G24A) with colorectal cancer (CRC) risk. The present study was aimed to evaluate the association of these two variants with CRC susceptibility via the meta-analysis methods. For variant TGFBR1*6A, nine re...
journal_title:Molecular biology reports
pub_type: 杂志文章,meta分析
doi:10.1007/s11033-011-1009-6
更新日期:2012-03-01 00:00:00
abstract::Azotobacter chroococcum and A. salinestris do not possess significant and distinct morphological and physiological differences and are often mistaken with each other in microbiological research. In this study, 12 isolates of Azotobacter isolated by standard protocol from soils were identified morphologically and physi...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-019-05133-7
更新日期:2020-01-01 00:00:00
abstract::Purified cucumber mosaic virus (CMV) RNA was reacted with NaIO4 and then [3H]KBH4 to label ends containing exposed 2',3'-hydroxyls. The four major RNA species were then fractionated by polyacrylamide gel electrophoresis. Analysis of digests of these RNAs by ribonucleases T1 plus T2, alkaline phosphatease, snake venom ...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/BF00357014
更新日期:1975-12-01 00:00:00
abstract::P73 is a structural and functional homologue of p53, and plays an important role in regulating cell cycle and apoptosis. A potentially functional polymorphism (designated as p73 G4C14-to-A4T14) has been identified in a region in exon 2 of the p73 gene, which may theoretically form a stem-loop structure and thereby aff...
journal_title:Molecular biology reports
pub_type: 杂志文章,meta分析
doi:10.1007/s11033-011-0913-0
更新日期:2012-02-01 00:00:00
abstract::Recent Genome-Wide Association Studies have identified several single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) among women of Asian, European, and African-American ancestry. Nevertheless, the contribution of these variants in the South American population is unknown. Furthermore, there is lit...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-014-3236-0
更新日期:2014-06-01 00:00:00
abstract::The complete mitochondrial genome 15,650 bp in size of the Deracantha onos has been determined. The gene content, base composition and codon usage of D. onos are coincident to typical hexapods mitochondrial genomes. Genes arrangement of D. onos is identical to Gryllotalpa orientalis, Ruspolia dubia and Anabrus simplex...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-007-9145-8
更新日期:2009-01-01 00:00:00
abstract::This study aims to investigate the apoptotic and anti-angiogenic effect of Zoledronic acid on hormone-refractory prostate cancer cell lines. XTT cell proliferation assay used to assess cytotoxicity. Caspase 3/7 activity and DNA fragmentation were measured to verify apoptosis. Angiogenic cytokine profiles investigated ...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-020-05840-6
更新日期:2020-10-01 00:00:00
abstract::Laparoscopic surgery techniques have been increasingly preferred to classic laparotomy by surgeons since 1987. However, this method may have some side effects on different intraabdominal organs including kidneys. The aim of this study is to evaluate the effects of different pressures of CO2 on p53 related apoptosis in...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-014-3519-5
更新日期:2014-10-01 00:00:00
abstract::Finger millet (Eleusine coracana L.) is an important crop used for food, forage, and industrial products. Three DNA marker techniques, random amplified polymorphic DNA (RAPD), simple sequence repeat (SSR) and cytochrome P(450) gene based markers were used for the detection of genetic polymorphism in 83 accessions of f...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-010-0067-5
更新日期:2010-12-01 00:00:00
abstract::The multidrug and toxic compound extrusion (MATE) protein family is a newly discovered family of secondary transporters that extrude metabolic waste and a variety of antibiotics out of the cell using an electrochemical gradient of H+ or Na+ across the membrane. The main function of MATE gene family is to participate i...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-018-4487-y
更新日期:2019-02-01 00:00:00
abstract::Dendropoma petraeum, considered the primary vermetid reef-building species in the Mediterranean, has recently been shown to be a species complex of at least four cryptic species. These species have highly restricted, non-overlapping distributions, causing concern for their conservation status. To better study the gene...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-018-4346-x
更新日期:2018-12-01 00:00:00
abstract::We performed PCR of many DNA fragments of 6-32 nucleotides in length. Some of the fragments expanded into kilobase lengths even in the absence of the complementary strand. The dramatic expansion was observed for (CA)8, (TG)8, (CA)4, (CA)6, (CA)12, (TG)4, (TG)6, (TG)12, (TC)10, (GA)10 and other single strands. Similar ...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1023/a:1024916602218
更新日期:2003-09-01 00:00:00
abstract::An extensive study on spontaneous and 5-Fluorodeoxyuridine induced fragile sites identified Xq31 in cattle (Bos taurus) and (Xq24, Xq26) in sheep (Ovis aries) in addition to several autosomal fragile sites (under publication). A ZOO-FISH study using three cloned human fragile-X probes with CCG/CGG(n) trinucleotide rep...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-008-9221-8
更新日期:2009-03-01 00:00:00
abstract::The association between vascular endothelial growth factor (VEGF) gene polymorphisms and risk of head and neck cancer (HNC) were investigated in many published studies; however, the currently available results are inconclusive. Therefore, we conducted this meta-analysis for deriving a more precise estimation of associ...
journal_title:Molecular biology reports
pub_type: 杂志文章,meta分析
doi:10.1007/s11033-013-2708-y
更新日期:2013-10-01 00:00:00
abstract::The response of glycolysis to exposure of glucose in non-growing S. cerevisiae cells from diauxic shift was monitored. The result was compared to a kinetic model of glycolysis with branches to glycogen, trehalose, glycerol, and succinate. Experimental data at steady-state concentrations of metabolites in the upper par...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1023/a:1020349023158
更新日期:2002-01-01 00:00:00
abstract::Through the process of alternative splicing, proteins with distinct biological functions and localisations are generated from a single gene. The mitochondrial folate metabolism enzyme methylenetetrahydrofolate dehydrogenase 2 (MTHFD2) has been receiving attention in recent years as one of the most frequently upregulat...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-020-05775-y
更新日期:2020-09-01 00:00:00
abstract::Sulfonamide derivatives, such as sulfadiazine (SD) are used as antibiotics and, very recently, anti-amyloid properties of these have been reported. We have evaluated binding of SD with bovine serum albumin (BSA) followed by unfolding of protein. Studies were accomplished at physiological conditions of temperature (37 ...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-013-2719-8
更新日期:2013-11-01 00:00:00
abstract::Movement assisted by muscles forms the basis of various behavioural traits seen in Drosophila. Myogenesis involves developmental processes like cellular specification, differentiation, migration, fusion, adherence to tendons and neuronal innervation in a series of coordinated event well defined in body space and time....
journal_title:Molecular biology reports
pub_type: 杂志文章,评审
doi:10.1007/s11033-020-06006-0
更新日期:2020-12-01 00:00:00
abstract::Nowadays, lower post-release survivorship of hatchery-reared fish in natural aquatic bodies has attained great attention and research is in progress to determine the reasons for their higher mortality. It is assumed that hatchery rearing environments negatively affect the physiological stress response of the fish. Thu...
journal_title:Molecular biology reports
pub_type: 杂志文章
doi:10.1007/s11033-020-05574-5
更新日期:2020-07-01 00:00:00