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Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey
BACKGROUND: FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we have characterised the spectrum of FANCM and RECQL mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. METHODS: We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of FANCM and RECQL in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123)...
January 19, 2018: BMC Medical Genetics
Anna Tervasmäki, Tuomo Mantere, Jaana M Hartikainen, Saila Kauppila, Hang-Mao Lee, Susanna Koivuluoma, Mervi Grip, Peeter Karihtala, Arja Jukkola-Vuorinen, Arto Mannermaa, Robert Winqvist, Katri Pylkäs
Several known breast cancer susceptibility genes with moderate-to-high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are likely to be discovered. Many of the previous studies utilizing massive parallel sequencing have focused on the protein-truncating variants, and the role of rare missense mutations has remained poorly addressed. In order to identify novel susceptibility factors, we have systematically analyzed the data from our parallel sequencing of 796 DDR genes in 189 Northern Finnish hereditary breast cancer patients for rare missense variants, predicted as deleterious...
January 17, 2018: International Journal of Cancer. Journal International du Cancer
(no author information available yet)
An intronic indel variant enhances RECQL binding to upregulate PARP1 in melanocytic cells.
August 14, 2017: Cancer Discovery
Jiyeon Choi, Mai Xu, Matthew M Makowski, Tongwu Zhang, Matthew H Law, Michael A Kovacs, Anton Granzhan, Wendy J Kim, Hemang Parikh, Michael Gartside, Jeffrey M Trent, Marie-Paule Teulade-Fichou, Mark M Iles, Julia A Newton-Bishop, D Timothy Bishop, Stuart MacGregor, Nicholas K Hayward, Michiel Vermeulen, Kevin M Brown
Previous genome-wide association studies have identified a melanoma-associated locus at 1q42.1 that encompasses a ∼100-kb region spanning the PARP1 gene. Expression quantitative trait locus (eQTL) analysis in multiple cell types of the melanocytic lineage consistently demonstrated that the 1q42.1 melanoma risk allele (rs3219090[G]) is correlated with higher PARP1 levels. In silico fine-mapping and functional validation identified a common intronic indel, rs144361550 (-/GGGCCC; r2 = 0.947 with rs3219090), as displaying allele-specific transcriptional activity...
September 2017: Nature Genetics
Hyun-Ju Kim, Jeanho Yun
Mediator complex subunit 1 (Med1)/Thyroid hormone receptor-associated protein 220 (TRAP220), an essential component of thyroid hormone receptor-associated proteins (TRAP)/mediator, plays important roles in hormone responses and tumorigenesis. However, the role of Med1 in the DNA damage response has not been studied. In this study, we found that DNA damage, resulted from γ-irradiation, ultraviolet (UV)-irradiation, or hydroxyurea, induced phosphorylation of Med1 in vivo. Phosphorylation of Med1 was abrogated by either caffeine or wortmannin treatment, suggesting that Med1 is phosphorylated through the DNA damage checkpoint pathway...
June 1, 2017: Acta Biochimica et Biophysica Sinica
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 base pair-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...
February 2017: Human Mutation
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...
April 2017: Familial Cancer
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
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
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
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
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
Mohammad R Akbari, Cezary Cybulski
No abstract text is available yet for this article.
September 29, 2015: Oncotarget
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
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
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
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
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
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
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
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