MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers
In this study, our goal was to verify MIR605 rs2043556 allele frequencies and further explore its possible effects on the phenotype of 238 Brazilian individuals carrying TP53 p.(Arg337His). The MIR605 rs2043556 G allele was detected in 136 (57.1%) individuals, including 25 homozygotes (10.5%), and although it had been previously associated with an earlier mean age of tumor onset, this effect was not observed in this study (p=0.8). However, in p.(Arg337His) mutation carriers, the GG genotype was significantly associated with the occurrence of multiple primary tumors (p=0.005). We provide further evidence of MIR605 rs204355...
Source: Cancer Genetics - November 20, 2019 Category: Cancer & Oncology Source Type: research
Stem cell factor receptor gene mutation: achalasia, mastocytosis and gastrointestinal stromal tumors.
Publication date: Available online 20 November 2019Source: Cancer GeneticsAuthor(s): Francisco Tustumi, Daniel José Szor, Rubens Antonio Aissar Sallum, Ivan Cecconello (Source: Cancer Genetics)
Source: Cancer Genetics - November 20, 2019 Category: Cancer & Oncology Source Type: research
Utility of Copy Number Variants in the Classification of Intracranial Ependymoma
Publication date: Available online 18 November 2019Source: Cancer GeneticsAuthor(s): Michael Evenson, Chunyu Cai, Vishwanathan Hucthagowder, Samantha McNulty, Julie Neidich, Shashikant Kulkarni, Sonika DahiyaAbstractEpendymomas are neuroepithelial tumors that differentiate along the ependymal cell lineage, a lining of the ventricles of the brain and the central canal of the spinal cord. They are rare in adults, but account for 9% of brain tumors in children, where they usually have an aggressive course. Efficient stratification could lead to improved care but remains a challenge even in the genomic era. Recent studies prop...
Source: Cancer Genetics - November 20, 2019 Category: Cancer & Oncology Source Type: research
Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens
We present a novel, TdT and CD3 negative, aggressive early T-cell precursor LBL (ETP-LBL) initially misdiagnosed as a high grade B-cell lymphoma due to expression of CD79a and the erroneous detection of BCL2/IGH fusion. The patient was eventually evaluated using molecular diagnostic techniques, including fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) assays that demonstrated PICALM-MLLT10 fusion and a NOTCH1 mutation in the absence of BCL2/IGH fusion. The use of NGS, specifically mate-pair sequencing (MPseq), subsequently confirmed an in-frame PICALM-MLLT10 fusion. Our retrospective analysis...
Source: Cancer Genetics - November 17, 2019 Category: Cancer & Oncology Source Type: research
Molecular and phenotypic characterization of an early T precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens
We present a novel, TdT and CD3 negative, aggressive early T-cell precursor LBL (ETP-LBL) initially misdiagnosed as high grade B-cell lymphoma due to expression of CD79a and the erroneous detection of BCL2/IGH fusion. The patient was eventually evaluated using molecular diagnostic techniques, including fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) assays that demonstrated PICALM-MLLT10 fusion and a NOTCH1 mutation in the absence of BCL2/IGH fusion. The use of NGS, specifically mate-pair sequencing (MPseq), subsequently confirmed an in-frame PICALM-MLLT10 fusion. Our retrospective analysis s...
Source: Cancer Genetics - November 11, 2019 Category: Cancer & Oncology Source Type: research
Circ-SLC7A5, a potential prognostic circulating biomarker for detection of ESCC
Publication date: Available online 5 November 2019Source: Cancer GeneticsAuthor(s): Qian Wang, Han Liu, Zihao Liu, Lili Yang, Jian Zhou, Handong Sun, Xiufeng CaoAbstractCircular RNAs (circRNAs), resulting from the non-canonical splicing of linear pre-mRNAs, have permanently altered our perspectives toward cancer recently, especially in carcinogenesis and cancer progression. However, the roles of circRNAs in esophageal squamous cell carcinoma (ESCC) remain largely unknown. In the current study, circRNAs expression profiles are screened in ESCC, using plasma samples from 10 ESCC patients, including different TNM stages and 5...
Source: Cancer Genetics - November 6, 2019 Category: Cancer & Oncology Source Type: research
c.1227_1228dupGG (p.Glu410Glyfs), A Frequent Variant in Tunisian Patients with MUTYH Associated Polyposis
ConclusionPatients with attenuated familial adenomatous polyposis (<=100) and no obvious vertical transmission of the disease should be considered for MUTYH gene testing. (Source: Cancer Genetics)
Source: Cancer Genetics - November 6, 2019 Category: Cancer & Oncology Source Type: research
Cytogenetic and Molecular Genetic Characterization of KMT2A-PTD Positive Acute Myeloid Leukemia in Comparison to KMT2A-Rearranged Acute Myeloid Leukemia
Publication date: Available online 1 November 2019Source: Cancer GeneticsAuthor(s): Calogero Vetro, Torsten Haferlach, Manja Meggendorfer, Anna Stengel, Sabine Jeromin, Wolfgang Kern, Claudia HaferlachAbstractTo define the biological differences in acute myeloid leukaemia (AML) with KMT2A gene involvements and their prognostic impact, we compared 190 de novo AML patients at diagnosis, 95 harbouring KMT2A-rearrangement (KMT2Ar) and 95 KMT2A-PTD by performing cytogenetic and molecular genetic analyses. Both AML subtypes had an unfavourable outcome, particularly in patients> 60 years. Patients with KMT2Ar were younger compare...
Source: Cancer Genetics - November 2, 2019 Category: Cancer & Oncology Source Type: research
Editorial Board
Publication date: November 2019Source: Cancer Genetics, Volume 239Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - October 31, 2019 Category: Cancer & Oncology Source Type: research
High-resolution copy number analysis of clear cell endometrial carcinoma
In conclusion, our study provides evidence of inter-tumor heterogeneity in the extent to which SCNAs occur in clinically diagnosed clear cell EC, and across molecular subgroups of EC. The co-occurrence of high-level SCNAs and TP53 mutations in some clear cell ECs is consistent with the view that a subset of clinically diagnosed clear cell ECs have molecular similarities to serous ECs. (Source: Cancer Genetics)
Source: Cancer Genetics - October 22, 2019 Category: Cancer & Oncology Source Type: research
Clinicopathologic Features and Genetic Characteristics of the BRCA1/2 Mutation in Turkish Breast Cancer Patients
In conclusion, our data showed differences in the distribution of the mutation spectrum of BRCA1 and BRCA2 in Turkey. (Source: Cancer Genetics)
Source: Cancer Genetics - October 18, 2019 Category: Cancer & Oncology Source Type: research
Aberrant epigenetic inactivation of RASSF1A and MGMT gene and genetic mutations of KRAS, cKIT and BRAF in Indian testicular germ cell tumours
In conclusion, these data support the notion that the cancer-associated alterations in the RASSF1, MGMT and KRAS gene may significantly contribute to TGCT pathogenesis. (Source: Cancer Genetics)
Source: Cancer Genetics - October 15, 2019 Category: Cancer & Oncology Source Type: research
ATM Whole Gene Deletion in an Italian Family with Hereditary Pancreatic Cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion
We describe a contiguous gene deletion of the ATM locus in a multi-generation family of Italian descent with a strong family history of pancreatic cancer. A deletion of one copy of the entire ATM gene was identified by routine panel testing and further characterized by chromosomal microarray analysis. An 11q22.3 microdeletion of approximately 960kb was identified that is predicted to result in loss of 10 genes including ATM. The deletion was identified in two additional family members including a presymptomatic daughter and an affected sibling. A normal disomic complement of the 11q22.3 region was detected in a third famil...
Source: Cancer Genetics - October 13, 2019 Category: Cancer & Oncology Source Type: research
Progress in quantitative technique of circulating cell free DNA and its role in cancer diagnosis and prognosis
Publication date: Available online 11 October 2019Source: Cancer GeneticsAuthor(s): Jia-Lei Weng, Manar Atyah, Chen-Hao Zhou, Ning RenAbstractThe interest in the potential application value of circulating cell free DNA (ccfDNA) has increased rapidly in recent years, as numerous researchers have demonstrated that the change of its level in the blood is associated with many diseases. Its potential role in cancer management is of particular concern. In comparison with traditional invasive tissue biopsy, quantitative analysis of ccfDNA level for the detection of cancer is advantageous due to the non-invasiveness of blood colle...
Source: Cancer Genetics - October 12, 2019 Category: Cancer & Oncology Source Type: research
Editorial Board
Publication date: October 2019Source: Cancer Genetics, Volume 238Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - September 26, 2019 Category: Cancer & Oncology Source Type: research
