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Cancer predisposition

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https://www.readbyqxmd.com/read/28091841/transumbilical-abdominal-incision-for-laparoscopic-colorectal-surgery-does-not-increase-the-risk-of-postoperative-surgical-site-infection
#1
Mizunori Yaegashi, Koki Otsuka, Toshimoto Kimura, Masanori Hakozaki, Megumu Kamishima, Tomoki Hatanaka, Kei Sato, Hitoshi Fujii, Teppei Matsuo, Akira Sasaki
PURPOSE: Besides antibiotic prophylaxis, antiseptic skin preparation is an important measure to prevent surgical site infection (SSI). No reports have detailed the relationship between SSI and umbilical microflora following laparoscopic colorectal cancer with a transumbilical longitudinal incision. METHODS: Risk factors and the rate of SSI were investigated in 453 patients who underwent laparoscopic colorectal resection over a 3-year period. Microbiological samples were collected from the umbilicus and SSI areas...
January 13, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28087410/repair-of-8-oxog-a-mismatches-by-the-mutyh-glycosylase-mechanism-metals-medicine
#2
REVIEW
Douglas M Banda, Nicole N Nuñez, Michael A Burnside, Katie M Bradshaw, Sheila S David
Reactive oxygen and nitrogen species (RONS) may infringe on the passing of pristine genetic information by inducing DNA inter- and intra-strand crosslinks, protein-DNA crosslinks, and chemical alterations to the sugar or base moieties of DNA. 8-Oxo-7,8-dihydroguanine (8-oxoG) is one of the most prevalent DNA lesions formed by RONS and is repaired through the base excision repair (BER) pathway involving the DNA repair glycosylases OGG1 and MUTYH in eukaryotes. MUTYH removes adenine (A) from 8-oxoG:A mispairs, thus mitigating the potential of G:C to T:A transversion mutations from occurring in the genome...
January 10, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28076423/unique-features-of-germline-variation-in-five-egyptian-familial-breast-cancer-families-revealed-by-exome-sequencing
#3
Yeong C Kim, Amr S Soliman, Jian Cui, Mohamed Ramadan, Ahmed Hablas, Mohamed Abouelhoda, Nehal Hussien, Ola Ahmed, Abdel-Rahman Nabawy Zekri, Ibrahim A Seifeldin, San Ming Wang
Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific. However, current knowledge of genetic predisposition for the disease is predominantly derived from Western populations. Using this existing information as the sole reference to judge the predisposition in non-Western populations is not adequate and can potentially lead to misdiagnosis. Efforts are required to collect genetic predisposition from non-Western populations...
2017: PloS One
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#4
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28068329/the-primacy-of-nf1-loss-as-the-driver-of-tumorigenesis-in-neurofibromatosis-type-1-associated-plexiform-neurofibromas
#5
A Pemov, H Li, R Patidar, N F Hansen, S Sindiri, S W Hartley, J S Wei, A Elkahloun, S C Chandrasekharappa, J F Boland, S Bass, J C Mullikin, J Khan, B C Widemann, M R Wallace, D R Stewart
Neurofibromatosis type 1 (NF1) is a common tumor-predisposition disorder due to germline mutations in the tumor suppressor gene NF1. A virtually pathognomonic finding of NF1 is the plexiform neurofibroma (PN), a benign, likely congenital tumor that arises from bi-allelic inactivation of NF1. PN can undergo transformation to a malignant peripheral nerve sheath tumor, an aggressive soft-tissue sarcoma. To better understand the non-NF1 genetic contributions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide copy-number determination for 23 low-passage Schwann cell cultures established from surgical PN material with matching germline DNA...
January 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28066990/management-of-adrenal-masses-in-patients-with-beckwith-wiedemann-syndrome
#6
Suzanne P MacFarland, Sogol Mostoufi-Moab, Kristin Zelley, Peter A Mattei, Lisa J States, Tricia R Bhatti, Kelly A Duffy, Garrett M Brodeur, Jennifer M Kalish
Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth and cancer predisposition syndrome, associated with both benign and malignant adrenal findings. Literature review and an institutional case series elucidate the wide spectrum of adrenal findings in BWS patients. The altered expression of the 11p15 region is likely related to adrenal gland hyperplasia and growth dysregulation. Given the absence of guidelines for managing adrenal findings in BWS, we propose a systematic approach to adrenal findings in BWS patients, to allow for maximum detection of potentially malignant pathology without posing additional risk to patients...
January 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28065618/pathological-features-and-clinical-behavior-of-lynch-syndrome-associated-ovarian-cancer
#7
N A J Ryan, D G Evans, K Green, E J Crosbie
OBJECTIVE: Lynch syndrome (LS) is an inherited tumor predisposition condition caused by mutations in the mismatch repair (MMR) genes. Mutation carriers are at increased risk of various malignancies, including ovarian cancer (OC). Relatively little is known about the pathological features and clinical behavior of LS associated OC. METHODS: We analyzed the data of 1047 proven MMR mutated individuals from a prospectively maintained database at a large referral center for genomic medicine in the North West of England...
January 5, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28060130/intracardiac-low-grade-sarcoma-following-treatment-for-ewing-sarcoma
#8
Michael V Ortiz, Heather Magnan, Emily K Slotkin, Srikanth R Ambati, Alexander J Chou, Leonard H Wexler, Paul A Meyers, Michael F Walsh, Todd Heaton, Leonard N Girardi, Suzanne L Wolden, Anita P Price, Jennifer A Kennedy, Ahmet Zehir, Meera Hameed, Michael F Berger, Alex Kentsis, Neerav Shukla
A 16-year-old male was diagnosed with Ewing sarcoma of the ribcage with pulmonary metastases. Six months after completion of scheduled therapy, he was found to have a new intracardiac mass, presumed recurrent Ewing sarcoma. EWSR1 fusion was not detected by droplet digital polymerase chain reaction from blood plasma. After no improvement with salvage chemotherapy, he underwent surgical resection that identified a low-grade spindle cell sarcoma. Despite the near-synchronous presentation of 2 unrelated sarcomas, extensive genomic analyses did not reveal any unifying somatic or germline mutations nor any apparent cancer predisposition...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28059856/lack-of-correlation-between-x-ray-repair-cross-complementing-group-1-gene-polymorphisms-and-the-susceptibility-to-colorectal-cancer-in-a-malaysian-cohort
#9
Tze-Pheng Lau, Lay-Hoong Lian, Phaik-Leng Cheah, Lai-Meng Looi, April C Roslani, Khean-Lee Goh, Ping-Chin Lee, Kek-Heng Chua
X-ray repair cross-complementing group 1 (XRCC1) is one of the key components in the base excision repair pathway that repairs erroneous DNA lesions and removes nonbulky base adducts for the maintenance of genome integrity. Studies have revealed that differences in individual DNA repair capacity can impact the interindividual variation in cancer susceptibility, tumour aggressiveness and treatment response. The relationship between XRCC1 and sporadic colorectal cancer (CRC) susceptibility, which is hitherto inconclusive, has been explored in many association studies of different populations...
January 4, 2017: European Journal of Cancer Prevention
https://www.readbyqxmd.com/read/28057210/epigenetic-changes-in-chronic-inflammatory-diseases
#10
O Fogel, C Richard-Miceli, J Tost
The number of people diagnosed with chronic inflammatory diseases has increased noteworthy in the last 40 years. Spondyloarthritis (SpA), inflammatory bowel diseases (IBD), and psoriasis are the most frequent chronic inflammatory diseases, resulting from a combination of genetic predisposition and environmental factors. Epigenetic modifications include DNA methylation, histone modifications, and small and long noncoding RNAs. They are influenced by environmental exposure, life-style, and aging and have recently been shown to be altered in many complex diseases including inflammatory diseases...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28054831/lessons-learned-from-an-unstable-genomic-landscape
#11
Charles L Limoli
PURPOSE: This brief historical perspective will highlight the many accomplishments of the late William "Bill" Morgan, and how his laboratory during the mid-1990s shaped the field of genomic instability. Bill focused on the processes responsible for radiation-induced genomic instability, and while ionizing radiation was known to induce this phenomenon, the precise causes were poorly understood. Here we revisit Bill's unique approach to these problems, as he advocated the use of novel mammalian cell lines to tease apart the mechanisms responsible for destabilizing an otherwise stable nuclear genome...
January 5, 2017: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/28054715/tubal-origin-of-ovarian-cancer-the-double-edged-sword-of-haemoglobin
#12
Shiou-Fu Lin, Emily Gerry, Ie-Ming Shih
Ovarian high-grade serous carcinoma (HGSC) is the most malignant neoplasm of the gynaecologic tract. While the origins of many human malignant neoplasms are clear, the origin of HGSC remains poorly understood. This lack of knowledge limits our understanding of its pathogenesis and compromises efforts devoted to develop better early detection tools and effective preventative intervention. The tubal origin of HGSC has been put forward since the initial report of dysplastic lesions (now known as serous tubal intraepithelial carcinomas, or STICs) that morphologically resemble HGSC in the fallopian tube...
January 5, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28052327/tissue-disruption-increases-stochastic-gene-expression-thus-producing-tumours-cancer-initiation-without-driver-mutation
#13
REVIEW
Jean-Pascal Capp
Cancer research produced many paradoxical results in recent years. The reductionist approach now shows its limits. Considering the origin of the disease at the tissue level and increased stochastic gene expression (SGE) as a driving force, while admitting a role for genetic alterations in cancer progression, might solve these contradictions. Undifferentiated cells are characterized by open and accessible chromatin generating global and highly SGE (high expression noise) which is a hallmark of pluripotency, while differentiation is associated with progressive chromatin closing and decreased noise...
January 4, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28049826/myh9-binds-to-lncrna-gene-ptcsc2-and-regulates-foxe1-in-the-9q22-thyroid-cancer-risk-locus
#14
Yanqiang Wang, Huiling He, Wei Li, John Phay, Rulong Shen, Lianbo Yu, Baris Hancioglu, Albert de la Chapelle
A locus on chromosome 9q22 harbors a SNP (rs965513) firmly associated with risk of papillary thyroid carcinoma (PTC). The locus also comprises the forkhead box E1 (FOXE1) gene, which is implicated in thyroid development, and a long noncoding RNA (lncRNA) gene, papillary thyroid cancer susceptibility candidate 2 (PTCSC2). How these might interact is not known. Here we report that PTCSC2 binds myosin-9 (MYH9). In a bidirectional promoter shared by FOXE1 and PTCSC2, MYH9 inhibits the promoter activity in both directions...
January 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28049253/prostate-cancer-in-a-patient-with-a-family-history-of-brca-mutation-a-case-report-and-literature-review
#15
Won Hoon Song, Sung Han Kim, Jae Young Joung, Weon Seo Park, Ho Kyung Seo, Jinsoo Chung, Kang Hyun Lee
One of the most significant risk factors for prostate cancer (PC) is a family history of the disease, with germ-line mutations in the breast cancer predisposition gene (BRCA) 2 conferring the highest risk. We here report a 56-year-old man presented with painful gait disturbance and diagnosed PC with multiple disseminated bone metastases. The patient had a strong family history of breast cancer with his 2 nieces affected. Furthermore, his aunts and uncles from both sides were diagnosed with stomach, ovarian, and colorectal cancers...
February 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28045999/haplotypes-of-the-hla-g-3-untranslated-region-respond-to-endogenous-factors-of-hla-g-and-hla-g-cell-lines-differentially
#16
Isabelle Poras, Layale Yaghi, Gustavo Martelli-Palomino, Celso T Mendes-Junior, Yara Costa Netto Muniz, Natalia F Cagnin, Bibiana Sgorla de Almeida, Erick C Castelli, Edgardo D Carosella, Eduardo A Donadi, Philippe Moreau
The immune checkpoint HLA-G prevents maternal rejection of the fetus and contributes in cancer invasion and acceptance of allografts. The 5' and 3' regulatory regions of the HLA-G gene are polymorphic and balancing selection probably maintains this variability. It is proposed that nucleotide variations may affect the level of HLA-G expression. To investigate this issue we aimed to analyze how haplotypes of the 3' untranslated region (3'UTR) with highest worldwide frequencies, namely UTR-1, UTR-2, UTR-3, UTR-4, UTR-5, UTR-18 and UTR-7, impact the expression of a luciferase reporter gene in vitro...
2017: PloS One
https://www.readbyqxmd.com/read/28039362/defining-the-temporal-course-of-murine-neurofibromatosis-1-optic-gliomagenesis-reveals-a-therapeutic-window-to-attenuate-retinal-dysfunction
#17
Joseph A Toonen, Yu Ma, David H Gutmann
BACKGROUND: Optic gliomas arising in the neurofibromatosis type 1 (NF1) cancer predisposition syndrome cause reduced visual acuity in 30%-50% of affected children. Since human specimens are rare, genetically engineered mouse (GEM) models have been successfully employed for preclinical therapeutic discovery and validation. However, the sequence of cellular and molecular events that culminate in retinal dysfunction and vision loss has not been fully defined relevant to potential neuroprotective treatment strategies...
December 29, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/28036300/evolutionary-selected-tibetan-variants-of-hif-pathway-and-risk-of-lung-cancer
#18
Lucie Lanikova, N Scott Reading, Hao Hu, Tsewang Tashi, Tatiana Burjanivova, Anna Shestakova, Bhola Siwakoti, Binay Kumar Thakur, Chin Bahadur Pun, Amir Sapkota, Sarah Abdelaziz, Bing-Jian Feng, Chad D Huff, Mia Hashibe, Josef T Prchal
Tibetans existed in high altitude for ~25 thousand years and have evolutionary selected unique haplotypes assumed to be beneficial to hypoxic adaptation. EGLN1/PHD2 and EPAS1/HIF-2α, both crucial components of hypoxia sensing, are the two best-established loci contributing to high altitude adaptation. The co-adapted Tibetan-specific haplotype encoding for PHD2:p.[D4E /C127S] promotes increased HIF degradation under hypoxic conditions. The Tibetan-specific 200 kb EPAS1 haplotype introgressed from an archaic human population related to Denisovans which underwent evolutionary decay; however, the functional variant(s) responsible for high-altitude adaptation at EPAS1/HIF-2α have not yet been identified...
December 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/28035019/integration-of-population-level-genotype-data-with-functional-annotation-reveals-over-representation-of-long-noncoding-rnas-at-ovarian-cancer-susceptibility-loci
#19
Brett M Reid, Jennifer B Permuth, Y Ann Chen, Jamie K Teer, Alvaro N A Monteiro, Zhihua Chen, Jonathan Tyrer, Andrew Berchuck, Georgia Chenevix-Trench, Jennifer A Doherty, Ellen L Goode, Edwin S Iverson, Kate Lawrenson, Celeste L Pearce, Paul D Pharoah, Catherine M Phelan, Susan J Ramus, Mary Anne Rossing, Joellen M Schildkraut, Jin Q Cheng, Simon A Gayther, Thomas A Sellers
BACKGROUND: Genome-wide association studies (GWAS) have identified multiple loci associated with epithelial ovarian cancer (EOC) susceptibility, but further progress requires integration of epidemiology and biology to illuminate true risk loci below genome-wide significance levels (P < 5 × 10(-8)). Most risk SNPs lie within non-protein-encoding regions, and we hypothesize that long noncoding RNA (lncRNA) genes are enriched at EOC risk regions and represent biologically relevant functional targets...
December 29, 2016: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28033443/association-between-loss-of-function-mutations-within-the-fancm-gene-and-early-onset-familial-breast-cancer
#20
Guido Neidhardt, Jan Hauke, Juliane Ramser, Eva Groß, Andrea Gehrig, Clemens R Müller, Anne-Karin Kahlert, Karl Hackmann, Ellen Honisch, Dieter Niederacher, Stefanie Heilmann-Heimbach, André Franke, Wolfgang Lieb, Holger Thiele, Janine Altmüller, Peter Nürnberg, Kristina Klaschik, Corinna Ernst, Nina Ditsch, Frank Jessen, Alfredo Ramirez, Barbara Wappenschmidt, Christoph Engel, Kerstin Rhiem, Alfons Meindl, Rita K Schmutzler, Eric Hahnen
Importance: Germline mutations in established moderately or highly penetrant risk genes for breast cancer (BC) and/or ovarian cancer (OC), including BRCA1 and BRCA2, explain fewer than half of all familial BC and/or OC cases. Based on the genotyping of 2 loss-of-function (LoF) variants c.5101C>T (p.GIn1701Ter [rs147021911]) and c.5791C>T (p.Arg1931Ter [rs144567652]), the FANCM gene has been suggested as a novel BC predisposition gene, while the analysis of the entire coding region of the FANCM gene in familial index cases and geographically matched controls is pending...
December 29, 2016: JAMA Oncology
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