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https://www.readbyqxmd.com/read/27859906/human-recq-helicase-pathogenic-variants-population-variation-and-missing-diseases
#1
Wenqing Fu, Alessio Ligabue, Kai J Rogers, Joshua M Akey, Raymond J Monnat
Heritable loss of function mutations in the human RECQ helicase genes BLM, WRN and RECQL4 cause Bloom, Werner and Rothmund-Thomson syndromes, cancer predispositions with additional developmental or progeroid features. In order to better understand RECQ pathogenic and population variation, we systematically analyzed genetic variation in all five human RECQ helicase genes. A total of 3,741 unique basepair-level variants were identified, across 17,605 potential mutation sites. Direct counting of BLM, RECQL4 and WRN pathogenic variants was used to determine aggregate and disease-specific carrier frequencies...
November 17, 2016: Human Mutation
https://www.readbyqxmd.com/read/27832498/analysis-of-a-recql-splicing-mutation-c-1667_1667-3delagta-in-breast-cancer-patients-and-controls-from-central-europe
#2
Natalia Bogdanova, Katja Pfeifer, Peter Schürmann, Natalia Antonenkova, Wulf Siggelkow, Hans Christiansen, Peter Hillemanns, Tjoung-Won Park-Simon, Thilo Dörk
RECQL is a DNA helicase required for genomic stability. Two studies have recently identified RECQL as a novel breast cancer susceptibility gene. The most common RECQL mutation, the 4 bp-deletion c.1667_1667+3delAGTA, was five-fold enriched in Polish breast cancer patients, but the exact magnitude of the risk is uncertain. We investigated two hospital-based breast cancer case-control series from Belarus and Germany, respectively, comprising a total of 2596 breast cancer patients and 2132 healthy females. The mutation was found in 9 cases and 6 controls, with an adjusted Odds Ratio 1...
November 10, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27504877/identification-and-functional-testing-of-ercc2-mutations-in-a-multi-national-cohort-of-patients-with-familial-breast-and-ovarian-cancer
#3
Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele, Karin Kast, Pauline Wimberger, Elke Holinski-Feder, Steffen Emmert, Evelin Schröck, Barbara Klink
The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in cancer susceptibility requires a detailed dissection and characterization of the underlying mutations for genes with diverse cellular functions (in this case mainly DNA repair and basic cellular transcription). In case of ERCC2, panel sequencing of 1345 index cases from 587 German, 405 Lithuanian and 353 Czech families with breast and ovarian cancer (BC/OC) predisposition revealed 25 mutations (3 frameshift, 2 splice-affecting, 20 missense), all absent or very rare in the ExAC database...
August 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27125668/germline-recql-mutations-in-high-risk-chinese-breast-cancer-patients
#4
Ava Kwong, Vivian Y Shin, Isabella W Y Cheuk, Jiawei Chen, Chun H Au, Dona N Ho, Tsun L Chan, Edmond S K Ma, Mohammad R Akbari, Steven A Narod
Recently, RECQL was reported as a new breast cancer susceptibility gene. RECQL belongs to the RECQ DNA helicase family which unwinds double strand DNA and involved in the DNA replication stress response, telomere maintenance and DNA repair. RECQL deficient mice cells are prone to spontaneous chromosomal instability and aneuploidy, suggesting a tumor-suppressive role of RECQL in cancer. In this study, RECQL gene mutation screening was performed on 1110 breast cancer patients who were negative for BRCA1, BRCA2, TP53 and PTEN gene mutations and recruited from March 2007 to June 2015 in the Hong Kong Hereditary and High Risk Breast Cancer Program...
June 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27023777/corrigendum-germline-recql-mutations-are-associated-with-breast-cancer-susceptibility
#5
Cezary Cybulski, Jian Carrot-Zhang, Wojciech Kluźniak, Barbara Rivera, Aniruddh Kashyap, Dominika Wokołorczyk, Sylvie Giroux, Javad Nadaf, Nancy Hamel, Shiyu Zhang, Tomasz Huzarski, Jacek Gronwald, Tomasz Byrski, Marek Szwiec, Anna Jakubowska, Helena Rudnicka, Marcin Lener, Bartłomiej Masojć, Patrica N Tonin, Francois Rousseau, Bohdan Górski, Tadeusz Dębniak, Jacek Majewski, Jan Lubiński, William D Foulkes, Steven A Narod, Mohammad R Akbari
No abstract text is available yet for this article.
April 2016: Nature Genetics
https://www.readbyqxmd.com/read/26743341/impact-of-polymorphic-variations-of-gemcitabine-metabolism-dna-damage-repair-and-drug-resistance-genes-on-the-effect-of-high-dose-chemotherapy-for-relapsed-or-refractory-lymphoid-malignancies
#6
Keiji Shinozuka, Hongwei Tang, Roy B Jones, Donghui Li, Yago Nieto
The goal of this study was to determine whether single nucleotide polymorphisms (SNPs) in genes involved in gemcitabine metabolism, DNA damage repair, multidrug resistance, and alkylator detoxification influence the clinical outcome of patients with refractory/relapsed lymphoid malignancies receiving high-dose gemcitabine/busulfan/melphalan (Gem/Bu/Mel) with autologous stem cell support. We evaluated 21 germline SNPs of the gemcitabine metabolism genes CDA, deoxycytidine kinase, and hCNT3; DNA damage repair genes RECQL, X-ray repair complementing 1, RAD54L, ATM, ATR, MLH1, MSH2, MSH3, TREX1, EXO1, and TP73; and multidrug-resistance genes MRP2 and MRP5; as well as glutathione-S-transferase GSTP1 in 153 patients with relapsed or refractory lymphoma or myeloma receiving Gem/Bu/Mel...
May 2016: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/26499077/decreased-recql5-correlated-with-disease-progression-of-osteosarcoma
#7
Junlong Wu, Liqiang Zhi, Xin Dai, Qingchun Cai, Wei Ma
Human RecQ helicase family, consisting of RECQL, RECQL4, RECQL5, BLM and WRN, has critical roles in genetic stability and tumorigenesis. Although RECQL5 has been reported to correlate with the susceptibility to malignances including osteosarcoma, the specific effect on tumor genesis and progression is not yet clarified. Here we focused on the relationship between RECQL5 expression and osteosarcoma disease progression, and further investigated the function of RECQL5 on MG-63 cell proliferation and apoptosis...
November 27, 2015: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/26387136/recql-a-dna-helicase-in-breast-cancer
#8
EDITORIAL
Mohammad R Akbari, Cezary Cybulski
No abstract text is available yet for this article.
September 29, 2015: Oncotarget
https://www.readbyqxmd.com/read/26358404/deleterious-germline-blm-mutations-and-the-risk-for-early-onset-colorectal-cancer
#9
Richarda M de Voer, Marc-Manuel Hahn, Arjen R Mensenkamp, Alexander Hoischen, Christian Gilissen, Arjen Henkes, Liesbeth Spruijt, Wendy A van Zelst-Stams, C Marleen Kets, Eugene T Verwiel, Iris D Nagtegaal, Hans K Schackert, Ad Geurts van Kessel, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg, Roland P Kuiper
Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the RECQL-helicase gene BLM. Previous studies have led to conflicting conclusions as to whether carriers of heterozygous BLM mutations have an increased risk to develop colorectal cancer (CRC). We recently identified two carriers of a pathogenic BLM mutation in a cohort of 55 early-onset CRC patients (≤45 years of age), suggesting an overrepresentation compared to the normal population...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26125302/recql-a-new-breast-cancer-susceptibility-gene
#10
Taraswi Banerjee, Robert M Brosh
Identifying and characterizing novel genetic risk factors for BRCA1/2 negative breast cancers is highly relevant for early diagnosis and development of a management plan. Mutations in a number of DNA repair genes have been associated with genomic instability and development of breast and various other cancers. Whole exome sequencing efforts by 2 groups have led to the discovery in distinct populations of multiple breast cancer susceptibility mutations in RECQL, a gene that encodes a DNA helicase involved in homologous recombination repair and response to replication stress...
2015: Cell Cycle
https://www.readbyqxmd.com/read/25945795/mutations-in-recql-gene-are-associated-with-predisposition-to-breast-cancer
#11
Jie Sun, Yuxia Wang, Yisui Xia, Ye Xu, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin, Huiqiang Lou, Yuntao Xie
The genetic cause for approximately 80% of familial breast cancer patients is unknown. Here, by sequencing the entire exomes of nine early-onset familial breast cancer patients without BRCA1/2 mutations (diagnosed with breast cancer at or before the age of 35) we found that two index cases carried a potentially deleterious mutation in the RECQL gene (RecQ helicase-like; chr12p12). Recent studies suggested that RECQL is involved in DNA double-strand break repair and it plays an important role in the maintenance of genomic stability...
May 2015: PLoS Genetics
https://www.readbyqxmd.com/read/25915596/germline-recql-mutations-are-associated-with-breast-cancer-susceptibility
#12
Cezary Cybulski, Jian Carrot-Zhang, Wojciech Kluźniak, Barbara Rivera, Aniruddh Kashyap, Dominika Wokołorczyk, Sylvie Giroux, Javad Nadaf, Nancy Hamel, Shiyu Zhang, Tomasz Huzarski, Jacek Gronwald, Tomasz Byrski, Marek Szwiec, Anna Jakubowska, Helena Rudnicka, Marcin Lener, Bartłomiej Masojć, Patrica N Tonin, Francois Rousseau, Bohdan Górski, Tadeusz Dębniak, Jacek Majewski, Jan Lubiński, William D Foulkes, Steven A Narod, Mohammad R Akbari
Several moderate- and high-risk breast cancer susceptibility genes have been discovered, but more are likely to exist. To discover new breast cancer susceptibility genes, we used 2 populations (from Poland and Quebec, Canada) and applied whole-exome sequencing in a discovery phase (n = 195), followed by validation. We identified rare recurrent RECQL mutations in each population. In Quebec, 7 of 1,013 higher-risk breast cancer cases and 1 of 7,136 newborns carried the c.634C>T (p.Arg215*) variant (P = 0.00004)...
June 2015: Nature Genetics
https://www.readbyqxmd.com/read/25867335/single-nucleotide-polymorphism-in-the-recql5-gene-increased-osteosarcoma-susceptibility-in-a-chinese-han-population
#13
Y Z Dong, Y X Huang, T Lu
In this study, we investigated the association between a RECQL genetic polymorphism and osteosarcoma in a Chinese population. We selected rs820196 in the RECQL5 gene and genotyped 185 patients with osteosarcoma and 201 age- and gender-matched non-cancer controls. We found that the CC genotype was more frequent in the osteosarcoma group compared to the control group (P = 0.011). We also found that the C allele was more common in osteosarcoma patients than that in control subjects (P = 0.004). Our results suggested that the RECQL5 genetic polymorphism was associated with osteosarcoma in a Chinese population...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/25555679/recq-helicases-and-parp1-team-up-in-maintaining-genome-integrity
#14
REVIEW
Sebastian Veith, Aswin Mangerich
Genome instability represents a primary hallmark of aging and cancer. RecQL helicases (i.e., RECQL1, WRN, BLM, RECQL4, RECQL5) as well as poly(ADP-ribose) polymerases (PARPs, in particular PARP1) represent two central quality control systems to preserve genome integrity in mammalian cells. Consistently, both enzymatic families have been linked to mechanisms of aging and carcinogenesis in mice and humans. This is in accordance with clinical and epidemiological findings demonstrating that defects in three RecQL helicases, i...
September 2015: Ageing Research Reviews
https://www.readbyqxmd.com/read/25394896/association-between-recql5-genetic-polymorphisms-and-susceptibility-to-breast-cancer
#15
Yu-Jun He, Zuo-Yi Qiao, Bo Gao, Xiao-Hua Zhang, Ya-Yuan Wen
Previous studies indicated that the RECQL5 gene polymorphism was associated with human cancers. However, the association of RECQL5 gene polymorphism with breast cancer remains unclear. In the present study, we investigated the association between polymorphisms of the RECQL gene and breast cancer in a Chinese population. We selected four polymorphisms of the RECQL5 gene (rs820186, rs820196, rs820200, and rs4789223) for the present study. The genotyping was performed using the TaqMan method in 510 patients with breast cancer and 510 age- and sex-matched non-cancer controls...
December 2014: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/24287950/association-of-recql5-gene-polymorphisms-and-osteosarcoma-in-a-chinese-han-population
#16
Li-Qiang Zhi, Wei Ma, Hong Zhang, Si-Xiang Zeng, Bo Chen
Despite the knowledge on many genetic variants present in osteosarcoma, the complexity of this disease precludes placing its biology into a simple conceptual framework. RECQL is a DNA helicase involved in DNA mismatch repair and has been reported to be associated with many human cancers. We aimed to investigate the association of RECQL genetic polymorphism with osteosarcoma in a Chinese population. We selected three polymorphisms of the RECQL5 gene (rs820196, rs820200, and rs4789223) in the present study. TaqMan method was utilized for genotyping these three SNPs in 212 patients with osteosarcoma and 240 age- and sex-matched noncancer controls...
April 2014: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/24213927/haplotype-analysis-of-recql5-gene-and-laryngeal-cancer
#17
Ying Qi, Xu Zhou
RECQL is a DNA helicase involved in DNA mismatch repair. Previous studies indicated that the RECQL gene mutation was associated with human cancers. In the present study, we investigated the association between polymorphisms of RECQL gene and laryngeal cancer in a Chinese population. Four polymorphisms of the RECQL5 gene (rs820186, rs820196, rs820200, and rs4789223) were genotyped by the TaqMan method in 275 patients with larynx cancer and 300 age- and sex-matched non-cancer controls. We found that rs820196 polymorphism of RECQL5 was associated with larynx cancer, the CC genotype (16...
March 2014: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/23908689/altered-recq-helicase-expression-in-sporadic-primary-colorectal-cancers
#18
Victoria Valinluck Lao, Piri Welcsh, Yanxin Luo, Kelly T Carter, Slavomir Dzieciatkowski, Suzanne Dintzis, Jane Meza, Nora E Sarvetnick, Raymond J Monnat, Lawrence A Loeb, William M Grady
Deregulation of DNA repair enzymes occurs in cancers and may create a susceptibility to chemotherapy. Expression levels of DNA repair enzymes have been shown to predict the responsiveness of cancers to certain chemotherapeutic agents. The RECQ helicases repair damaged DNA including damage caused by topoisomerase I inhibitors, such as irinotecan. Altered expression levels of these enzymes in colorectal cancer (CRC) may influence the response of the cancers to irinotecan. Thus, we assessed RECQ helicase (WRN, BLM, RECQL, RECQL4, and RECQL5) expression in primary CRCs, matched normal colon, and CRC cell lines...
August 2013: Translational Oncology
https://www.readbyqxmd.com/read/22705827/transcription-directed-by-human-core-promoters-with-a-homold-box-sequence-requires-ddb1-recql-and-rna-polymerase-ii-machinery
#19
Juan Contreras-Levicoy, Sandra Moreira-Ramos, Diego A Rojas, Fabiola Urbina, Edio Maldonado
TATA box is the most studied core promoter element and has a well-described transcription mechanism. However, most metazoan promoters lack TATA box and contain other core promoter elements. One of such elements is HomolD box, which was first described in promoters of ribosomal protein genes in Schizosaccharomyces pombe, and studies performed in this model showed that transcription directed by HomolD box is dependent on RNAPII machinery, and the HomolD-binding protein was Rrn7, a component of RNAPI core factor...
September 1, 2012: Gene
https://www.readbyqxmd.com/read/22219046/signal-transducer-and-activator-of-transcription-2-stat2-metabolism-coupling-postmitotic-outgrowth-to-visual-and-sound-perception-network-in-human-left-cerebrum-by-biocomputation
#20
Lin Wang, Juxiang Huang, Minghu Jiang, Hong Lin
We constructed the high-expression signal transducer and activator of transcription 2 (STAT2) metabolism coupling postmitotic outgrowth to visual and sound perception network in human left cerebrum compared with low-expression (fold change ≥2) chimpanzee left cerebrum in GEO data set by using integration of gene regulatory network inference method with gene ontology (GO) analysis of STAT2-activated up- and downstream network. Our result showed that upstream RECQL, PDIA2, ENOSF1, THBS4, RASGRP1, PER2, PDE8A, ORC2L, DCI, OGG1_2, SMA4, GPD1, etc...
July 2012: Journal of Molecular Neuroscience: MN
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