2019 USPS Statement of Ownership form
Publication date: October 2019Source: Cancer Genetics, Volume 238Author(s): (Source: Cancer Genetics)
Source: Cancer Genetics - September 26, 2019 Category: Cancer & Oncology Source Type: research

Transcriptomics-based screening of molecular signatures associated with patients overall survival and their key regulators in subtypes of breast cancer
In this study, we highlighted mechanisms underlying the regulation of breast cancer molecular signatures by TFs and miRNAs which their alteration reduce the chance of survival rate in each subtype of breast cancer. Our current study in a holistic insight revealed the importance of some genes and their regulators as potential prognostic markers and/or therapeutic targets in breast cancer patients. (Source: Cancer Genetics)
Source: Cancer Genetics - September 22, 2019 Category: Cancer & Oncology Source Type: research

A New Prognostic Factor of Breast Cancer: High Carboxyl Ester Lipase Expression related to Poor Survival
ConclusionsHigh CEL expression may be an independent prognostic factor for the poor survival of breast cancer. (Source: Cancer Genetics)
Source: Cancer Genetics - September 18, 2019 Category: Cancer & Oncology Source Type: research

Single nucleotide polymorphism rs10889677 in miRNAs Let-7e and Let-7f binding site of IL23R gene is a strong colorectal cancer determinant: report and meta-analysis
In conclusion, our results demonstrate that rs10889677 polymorphism is significantly associated with CRC risk. (Source: Cancer Genetics)
Source: Cancer Genetics - September 18, 2019 Category: Cancer & Oncology Source Type: research

Dysregulated expression of repetitive DNA in ER+/HER2- breast cancer
Publication date: Available online 6 September 2019Source: Cancer GeneticsAuthor(s): Cihangir Yandım, Gökhan KarakülahABSTRACTLimited studies on breast cancer indicated pathogenic changes in the expressions of some repeat elements. A global analysis was much needed within this context to distinguish the most significant repeats from more than a thousand repeat elements. Utilising a previously presented RNA-seq dataset, we studied expression changes of all repeats in ER+/HER2- human breast tumour samples obtained from 22 patients in comparison to matched normal tissues. 56 repeat subtypes including satellites and transpo...
Source: Cancer Genetics - September 6, 2019 Category: Cancer & Oncology Source Type: research

Burkitt-like Lymphoma in a Pediatric Patient with Familial Adenomatous Polyposis
Publication date: Available online 4 September 2019Source: Cancer GeneticsAuthor(s): Katie M. Strobel, Jacquelyn N. Crane, Kathryn L. Bradford, Yalda Naeini, William A. May, Vivian Y. ChangAbstractFamilial adenomatous polyposis (FAP) is an autosomal dominant condition that predisposes to multiple malignancies, most commonly colorectal carcinoma, but has rarely been associated with lymphoma. We discuss one patient found to have Burkitt-like Lymphoma (BLL) with 11q aberration in the setting of previously undiagnosed FAP. We review the literature of FAP and associated malignancies and the provisional WHO classification of Bur...
Source: Cancer Genetics - September 6, 2019 Category: Cancer & Oncology Source Type: research

A novel BRCA1 germline mutation promotes triple-negative breast cancer cells progression and enhances sensitivity to DNA damage agents
In this study, we conducted whole-exome sequencing to identify the disease-associated genes in a specific pedigree, in which at least eight individuals were diagnosed with cancers, including breast cancer, urothelial cancer, uterine cancer and colorectal cancer. Furthermore, a nonsense mutation BRCA1 p.Trp372X was identified in the proband. The Sanger sequencing data has validated the same nonsense mutation in other 4 cancer patients and 3 normal family members. Additionally, functional experiments detected that this mutation was implicated in TNBC progression, manifesting as increased cell proliferation and migration. Cel...
Source: Cancer Genetics - August 31, 2019 Category: Cancer & Oncology Source Type: research

Potential of epigenetic events in human thyroid cancer
Publication date: Available online 23 August 2019Source: Cancer GeneticsAuthor(s): Abdelkareem A. Ahmed, Mohammed Elmujtba Adam EssaAbstractThyroid cancer remains the highest prevailing endocrine malignancy, and its incidence rate has progressively increased in the previous years. Above 95% of thyroid tumor are follicular cells types of carcinoma in which are considered invasive type of tumor. The pathogenesis and molecular mechanism of thyroid tumors are yet remains elucidated, in spite of activating RET, RAS and BRAF carcinogenesis have been well introduced. Nemours molecular alterations have been defined and have reveal...
Source: Cancer Genetics - August 24, 2019 Category: Cancer & Oncology Source Type: research

A complex and cryptic intrachromosomal rearrangement generating the FIP1L1_PDGFRA in adult acute myeloid leukemia
Publication date: November 2019Source: Cancer Genetics, Volume 239Author(s): Nicoletta Coccaro, Luisa Anelli, Paola Orsini, Antonella Zagaria, Angela Minervini, Luciana Impera, Giuseppina Tota, Crescenzio Francesco Minervini, Cosimo Cumbo, Elisa Parciante, Maria Rosa Coserva, Immacolata Attolico, Giorgina Specchia, Francesco AlbanoAbstractMyeloid neoplasms with eosinophilia and abnormalities of the PDGFRA gene can benefit from therapy with tyrosine kinase inhibitors, therefore revealing the PDGFRA rearrangement is essential to ensure the best choice of treatment. The most common PDGFRA partner is the FIP1L1 gene, generatin...
Source: Cancer Genetics - August 24, 2019 Category: Cancer & Oncology Source Type: research

A loss-of-function heterozygous BRCA1 mutation found in a triple negative breast cancer case with family history of multiple cancers
In this study, we conducted whole-exome sequencing to identify the disease-associated genes in a specific pedigree, in which at least eight individuals were diagnosed with cancers, including breast cancer, urothelial cancer, uterine cancer and colorectal cancer. Furthermore, a nonsense mutation BRCA1 p.Trp372X was identified in the proband. The Sanger sequencing data has validated the same nonsense mutation in other 4 cancer patients and 3 normal family members. Additionally, functional experiments detected that this mutation was implicated in TNBC progression, manifesting as increased cell proliferation and migration. Cel...
Source: Cancer Genetics - August 23, 2019 Category: Cancer & Oncology Source Type: research

Rapid detection of chromosomal translocation and precise breakpoint characterization in acute myeloid leukemia by nanopore long-read sequencing
Publication date: Available online 23 August 2019Source: Cancer GeneticsAuthor(s): Chun Hang Au, Dona N. Ho, Beca B.K. Ip, Thomas S.K. Wan, Margaret H.L. Ng, Edmond K.W. Chiu, Tsun Leung Chan, Edmond S.K. MaAbstractDetection of chromosomal translocation is a key component in diagnosis and management of acute myeloid leukemia (AML). Targeted RNA next-generation sequencing (NGS) is emerging as a powerful and clinically practical tool, but it depends on expression of RNA transcript from the underlying DNA translocation. Here, we show the clinical utility of nanopore long-read sequencing in rapidly detecting DNA translocation ...
Source: Cancer Genetics - August 23, 2019 Category: Cancer & Oncology Source Type: research

A complex and cryptic intrachromosomal rearrangement generating the fip1l1-pdgfra fusion gene in adult acute myeloid leukemia
Publication date: Available online 21 August 2019Source: Cancer GeneticsAuthor(s): Nicoletta Coccaro, Luisa Anelli, Paola Orsini, Antonella Zagaria, Angela Minervini, Luciana Impera, Giuseppina Tota, Crescenzio Francesco Minervini, Cosimo Cumbo, Elisa Parciante, Maria Rosa Coserva, Immacolata Attolico, Giorgina Specchia, Francesco AlbanoAbstractMyeloid neoplasms with eosinophilia and abnormalities of the PDGFRA gene can benefit from therapy with tyrosine kinase inhibitors, therefore revealing the PDGFRA rearrangement is essential to ensure the best choice of treatment. The most common PDGFRA partner is the FIP1L1 gene, gen...
Source: Cancer Genetics - August 22, 2019 Category: Cancer & Oncology Source Type: research

CONFIRMATION OF DAMAGING EFFECT OF MSH2 c.2634+1G>C MUTATION ON SPLICING, ITS CLASSIFICATION AND IMPLICATIONS FOR COUNSELING
DiscussionMSH2 c.2634+1G>C mutation was not reported previously as LS associated. We confirmed its damaging effect on splicing. in silico tools predict consequent loss of protein domains implicating disrupted protein function. Our results suggest that this mutation should be classified as Pathogenic, and indicate inclusion of bladder cancer in LS cancer spectrum. (Source: Cancer Genetics)
Source: Cancer Genetics - August 15, 2019 Category: Cancer & Oncology Source Type: research

Cytogenomic Characterization of Double Minute Heterogeneity in Therapy Related Acute Myeloid Leukemia
Publication date: Available online 6 August 2019Source: Cancer GeneticsAuthor(s): Prasad Koduru, Weina Chen, Barbara Haley, Kevin Ho, Dwight Oliver, Kathleen WilsonAbstractBreast cancer patients treated with adjuvant chemotherapy regimens containing alkylating agents and anthracyclines are at an increased risk for secondary myeloid malignancies, either acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS). Complex genomic changes (karyotypes and/or gene amplification) accompany the development of the secondary neoplasms. Here we present a unique case of a breast cancer patient who developed secondary AML within 18...
Source: Cancer Genetics - August 8, 2019 Category: Cancer & Oncology Source Type: research

Masked hypodiploidy: hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group
Publication date: Available online 30 July 2019Source: Cancer GeneticsAuthor(s): Andrew J Carroll, Mary Shago, Fady M Mikhail, Susana C Raimondi, Betsy A Hirsch, Mignon L Loh, Elizabeth A Raetz, Michael J Borowitz, Brent L Wood, Kelly W Maloney, Leonard A Mattano, Eric C Larsen, Julie Gastier-Foster, Eileen Stonerock, Denise Ell, Samir Kahwash, Meenakshi Devidas, Richard C Harvey, I-Ming L Chen, Cheryl L WillmanAbstractHyperdiploidy with greater than 50 chromosomes is usually associated with favorable prognosis in pediatric acute lymphoblastic leukemia (ALL), whereas hypodiploidy with ≤43 chromosomes is associated with e...
Source: Cancer Genetics - July 31, 2019 Category: Cancer & Oncology Source Type: research