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Cancer predisposition

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https://www.readbyqxmd.com/read/29671401/comparisons-of-gene-coexpression-network-modules-in-breast-cancer-and-ovarian-cancer
#1
Shuqin Zhang
BACKGROUND: Breast cancer and ovarian cancer are hormone driven and are known to have some predisposition genes in common such as the two well known cancer genes BRCA1 and BRCA2. The objective of this study is to compare the coexpression network modules of both cancers, so as to infer the potential cancer-related modules. METHODS: We applied the eigen-decomposition to the matrix that integrates the gene coexpression networks of both breast cancer and ovarian cancer...
April 11, 2018: BMC Systems Biology
https://www.readbyqxmd.com/read/29668547/trilineage-hematopoiesis-induced-by-low-dose-eltrombopag-in-a-patient-with-fanconi-anemia-can-be-used-as-a-bridge-to-hematopoietic-stem-cell-transplant
#2
Ashish Gupta, Rasmi Palassery, Howard Meyerson, Sanjay Ahuja, Yousif Matloub
Fanconi anemia (FA) is an autosomal recessive, progressive bone marrow failure disorder characterized by congenital defects and marked cancer predisposition. Hematopoietic stem cell transplant is the therapy of choice for FA patients with progressive pancytopenia. These patients receive multiple transfusions for cytopenias. Oxymetholone has been used with variable success to improve cytopenias. Eltrombopag has been shown to induce bilineage or trilineage hematopoiesis in aplastic anemia and patients with myelodysplastic marrow...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29668499/tumor-syndromes-predisposing-to-osteosarcoma
#3
Meera Hameed, Diana Mandelker
Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly adolescents and young adults. It accounts for about 5% of all childhood cancers. Although the majority of OSs are sporadic, a small percentage occur as a component of hereditary cancer syndromes. Early onset, bilateral, multifocal, and metachronous tumors suggest genetic predisposition. The inheritance patterns can be autosomal dominant or recessive. These syndromes predispose to a wide variety of mesenchymal and epithelial cancers with propensity for certain mutations being prevalent in specific cancer subtypes...
April 17, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29667044/germline-variants-in-pancreatic-cancer-patients-with-a-personal-or-family-history-of-cancer-fulfilling-the-revised-bethesda-guidelines
#4
Akihiro Ohmoto, Chigusa Morizane, Emi Kubo, Erina Takai, Hiroko Hosoi, Yasunari Sakamoto, Shunsuke Kondo, Hideki Ueno, Kazuaki Shimada, Shinichi Yachida, Takuji Okusaka
BACKGROUND: Pancreatic cancer (PC) is categorized as a neoplasm associated with Lynch syndrome; however, the precise proportion of PC patients harboring DNA mismatch repair genes (MMR genes) remains unclear, especially in the Asian population. METHODS: Among 304 Japanese patients with pathologically proven pancreatic ductal adenocarcinoma, we selected 20 (6.6%) patients with a personal or family history involving first- or second-degree relatives fulfilling the revised Bethesda guidelines (RBG), defined as RBG-compatible cases...
April 17, 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29664845/blood-vessel-invasion-is-a-strong-predictor-of-postoperative-recurrence-in-endometrial-cancer
#5
Marie Sato, Ayumi Taguchi, Yamato Fukui, Akira Kawata, Satoru Taguchi, Tomoko Kashiyama, Satoko Eguchi, Tomoko Inoue, Kensuke Tomio, Michihiro Tanikawa, Kenbun Sone, Mayuyo Mori, Kazunori Nagasaka, Katsuyuki Adachi, Masako Ikemura, Yukako Domoto, Takahide Arimoto, Katsutoshi Oda, Masashi Fukayama, Yutaka Osuga, Tomoyuki Fujii
OBJECTIVES: Although lymphovascular space invasion is a prognostic factor for the recurrence of resectable endometrial cancer, the differential impacts of lymphatic vessel invasion (LVI) and blood vessel invasion (BVI) on the recurrence of endometrial cancer are poorly described. We investigated the prognostic significance of LVI and BVI on the recurrence of endometrial cancer and their association with patterns of recurrence. METHODS: We retrospectively reviewed 376 patients with stage I to III endometrial cancer who underwent surgery with curative intent at our institution between 2007 and 2015...
April 16, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29664031/association-of-330-interleukin-2-gene-polymorphism-with-oral-cancer
#6
Prithvi Kumar Singh, Vijay Kumar, Mohammad Kaleem Ahmad, Rajni Gupta, Abbas Ali Mahdi, Amita Jain, Jaishri Bogra, Girish Chandra
Background & objectives: Cytokines play an important role in the development of cancer. Several single-nucleotide polymorphisms (SNPs) of cytokine genes have been reported to be associated with the development and severity of inflammatory diseases and cancer predisposition. This study was undertaken to evaluate a possible association of interleukin 2 (IL-2) (- 330A>C) gene polymorphisms with the susceptibility to oral cancer. Methods: The SNP in IL-2 (-330A>C) gene was genotyped in 300 oral cancer patients and in similar number of healthy volunteers by polymerase chain reaction (PCR)-restriction fragment length polymorphism and the association of the gene with the disease was evaluated...
December 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29661970/consensus-for-genes-to-be-included-on-cancer-panel-tests-offered-by-uk-genetics-services-guidelines-of-the-uk-cancer-genetics-group
#7
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side
Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group facilitated a 1-day workshop with representation from the majority of National Health Service (NHS) clinical genetics services...
April 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29659923/a-nonsynonymous-variant-in-the-golm1-gene-in-cutaneous-malignant-melanoma
#8
Craig C Teerlink, Chad Huff, Jeff Stevens, Yao Yu, Sheri L Holmen, Mark R Silvis, Kirby Trombetti, Hua Zhao, Douglas Grossman, James M Farnham, Jingran Wen, Julio C Facelli, Alun Thomas, Markus Babst, Scott R Florell, Laurence Meyer, John J Zone, Sancy Leachman, Lisa A Cannon-Albright
Background: Statistically significant linkage of melanoma to chromosome 9q21 was previously reported in a Danish pedigree resource and independently confirmed in Utah high-risk pedigrees, indicating strong evidence that this region contains a melanoma predisposition gene. Methods: Whole-exome sequencing of pairs of related melanoma case subjects from two pedigrees with evidence of 9q21 linkage was performed to identify the responsible predisposition gene. Candidate variants were tested for association with melanoma in an independent set of 454 unrelated familial melanoma case subjects and 396 unrelated cancer-free control subjects from Utah, and 1534 melanoma case subjects and 1146 noncancer control subjects from Texas (MD Anderson) via a two-sided Fisher exact test...
April 11, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29659569/targeted-next-generation-sequencing-identifies-functionally-deleterious-germline-mutations-in-novel-genes-in-early-onset-familial-prostate-cancer
#9
Paula Paulo, Sofia Maia, Carla Pinto, Pedro Pinto, Augusta Monteiro, Ana Peixoto, Manuel R Teixeira
Considering that mutations in known prostate cancer (PrCa) predisposition genes, including those responsible for hereditary breast/ovarian cancer and Lynch syndromes, explain less than 5% of early-onset/familial PrCa, we have sequenced 94 genes associated with cancer predisposition using next generation sequencing (NGS) in a series of 121 PrCa patients. We found monoallelic truncating/functionally deleterious mutations in seven genes, including ATM and CHEK2, which have previously been associated with PrCa predisposition, and five new candidate PrCa associated genes involved in cancer predisposing recessive disorders, namely RAD51C, FANCD2, FANCI, CEP57 and RECQL4...
April 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29652830/colorectal-cancer-genetic-abnormalities-tumor-progression-tumor-heterogeneity-clonal-evolution-and-tumor-initiating-cells
#10
REVIEW
Ugo Testa, Elvira Pelosi, Germana Castelli
Colon cancer is the third most common cancer worldwide. Most colorectal cancer occurrences are sporadic, not related to genetic predisposition or family history; however, 20-30% of patients with colorectal cancer have a family history of colorectal cancer and 5% of these tumors arise in the setting of a Mendelian inheritance syndrome. In many patients, the development of a colorectal cancer is preceded by a benign neoplastic lesion: either an adenomatous polyp or a serrated polyp. Studies carried out in the last years have characterized the main molecular alterations occurring in colorectal cancers, showing that the tumor of each patient displays from two to eight driver mutations...
April 13, 2018: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29651783/unsolicited-information-letters-to-increase-awareness-of-lynch-syndrome-and-familial-colorectal-cancer-reactions-and-attitudes
#11
Helle Vendel Petersen, Birgitte Lidegaard Frederiksen, Charlotte Kvist Lautrup, Lars Joachim Lindberg, Steen Ladelund, Mef Nilbert
Dissemination of information on a genetically increased risk should according to guidelines primarily be family-mediated. Incomplete and incorrect information spread has, however, been documented and implies missed possibilities for prevention. In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer. To evaluate this approach, we investigated reactions and attitudes to unsolicited letters in 708 members of families with genetic predisposition and in 1600 individuals from the general population...
April 12, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29651604/patterns-and-frequency-of-renal-abnormalities-in-fanconi-anaemia-implications-for-long-term-management
#12
Vijaya Sathyanarayana, Beth Lee, Neville B Wright, Rui Santos, Denise Bonney, Robert Wynn, Leena Patel, Kate Chandler, Ed Cheesman, Detlev Schindler, Nicholas J A Webb, Stefan Meyer
BACKGROUND: Fanconi anaemia (FA) is an inherited disease with bone marrow failure, variable congenital and developmental abnormalities, and cancer predisposition. With improved survival, non-haematological manifestations of FA become increasingly important for long-term management. While renal abnormalities are recognized, detailed data on patterns and frequency and implications for long-term management are sparse. METHODS: We reviewed clinical course and imaging findings of FA patients with respect to renal complications in our centre over a 25-year period to formulate some practical suggestions for guidelines for management of renal problems associated with FA...
April 12, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29651209/polymorphic-variation-in-double-strand-break-repair-gene-in-indian-population-a-comparative-approach-with-worldwide-ethnic-group-variations
#13
Raju Kumar Mandal, Rama Devi Mittal
DNA repair capacity is essential in maintaining cellular functions and homeostasis. Identification of genetic polymorphisms responsible for reduced DNA repair capacity may allow better cancer prevention. Double strand break repair pathway plays critical roles in maintaining genome stability. Present study was conducted to determine distribution of XRCC3 Exon 7 (C18067T, rs861539) and XRCC7 Intron 8 (G6721T, rs7003908) gene polymorphisms in North Indian population and compare with different populations globally...
April 2018: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29650813/-the-cutting-edge-of-sarcoma-genomics
#14
Katsuhito Takahashi
Sarcoma is well-known rare cancer with few therapeutic options. Recent comprehensive genomic analyses of adult soft tissue sarcoma revealed few somatic mutations and massive copy number variations(CNVs)by the specific chromosomes. Those features are quite different from the genomics of carcinoma such as lung and colon cancers in which driver and passenger mutations play a central role in the pathogenesis. Furthermore, it has been demonstrated that substantial population of sarcoma patients has pathological germline variants of cancer predisposition genes...
April 2018: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/29649263/validation-of-czecanca-czech-cancer-panel-for-clinical-application-for-targeted-ngs-based-analysis-of-hereditary-cancer-syndromes
#15
Jana Soukupova, Petra Zemankova, Klara Lhotova, Marketa Janatova, Marianna Borecka, Lenka Stolarova, Filip Lhota, Lenka Foretova, Eva Machackova, Viktor Stranecky, Spiros Tavandzis, Petra Kleiblova, Michal Vocka, Hana Hartmannova, Katerina Hodanova, Stanislav Kmoch, Zdenek Kleibl
BACKGROUND: Carriers of mutations in hereditary cancer predisposition genes represent a small but clinically important subgroup of oncology patients. The identification of causal germline mutations determines follow-up management, treatment options and genetic counselling in patients' families. Targeted next-generation sequencing-based analyses using cancer-specific panels in high-risk individuals have been rapidly adopted by diagnostic laboratories. While the use of diagnosis-specific panels is straightforward in typical cases, individuals with unusual phenotypes from families with overlapping criteria require multiple panel testing...
2018: PloS One
https://www.readbyqxmd.com/read/29643929/colorectal-cancer-screening-the-role-of-psychological-social-and-background-factors-in-decision-making-process
#16
REVIEW
Giulia Cossu, Luca Saba, Luigi Minerba, Mario Mascalchi
Since ColoRectal Cancer (CRC) remains the third cause of cancer death in the world, a better understanding of the reasons underlying poor adherence to and delay in undergoing CRC screening programs is important. CRC screening decision-making process can be conceptualized as the relationship between intention and behavior and needs to be investigated including the impact on patients' decision of a broad range of psychological factors and personal predisposition as fear of a positive screening test, poor understanding of the procedure, psychological distress, anxiety, anticipation of pain, feelings of embarrassment and vulnerability...
2018: Clinical Practice and Epidemiology in Mental Health: CP & EMH
https://www.readbyqxmd.com/read/29642776/the-pink-underside-the-commercialization-of-medical-risk-assessment-and-decision-making-tools-for-hereditary-breast-cancer-risk
#17
Sharlene Hesse-Biber, Bailey Flynn, Keeva Farrelly
The growth of the Internet since the millennium has opened up a myriad of opportunities for education, particularly in medicine. Although those looking for health care information used to have to turn to a face-to-face doctor's visit, an immense library of medical advice is now available at their fingertips. The BRCA genetic predispositions (mutations of the BRCA1 and BRCA2 breast cancer genes) which expose men and women to greater risk of breast, ovarian, and other cancers can be researched extensively online...
April 1, 2018: Qualitative Health Research
https://www.readbyqxmd.com/read/29626620/genetic-contribution-to-non-squamous-non-small-cell-lung-cancer-in-non-smokers
#18
Shamus R Carr, Wallace Akerley, Lisa Cannon-Albright
INTRODUCTION: Lung carcinogenesis is strongly influenced by environmental and heritable factors. The genetic contribution to the different histologies is unknown. METHODS: A population-based computerized genealogy resource linked to a statewide cancer registry of lung cancer cases (n=5408) was analyzed to evaluate the heritable contribution to lung cancer histology in smoking (n=1751) and non-smoking cases (n=818). Statistical methods were used to test for significant excess relatedness of lung cancer cases...
April 4, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29625052/pathogenic-germline-variants-in-10-389-adult-cancers
#19
Kuan-Lin Huang, R Jay Mashl, Yige Wu, Deborah I Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila Reynolds, Matthew A Wyczalkowski, Ninad Oak, Adam D Scott, Michal Krassowski, Andrew D Cherniack, Kathleen E Houlahan, Reyka Jayasinghe, Liang-Bo Wang, Daniel Cui Zhou, Di Liu, Song Cao, Young Won Kim, Amanda Koire, Joshua F McMichael, Vishwanathan Hucthagowder, Tae-Beom Kim, Abigail Hahn, Chen Wang, Michael D McLellan, Fahd Al-Mulla, Kimberly J Johnson, Olivier Lichtarge, Paul C Boutros, Benjamin Raphael, Alexander J Lazar, Wei Zhang, Michael C Wendl, Ramaswamy Govindan, Sanjay Jain, David Wheeler, Shashikant Kulkarni, John F Dipersio, Jüri Reimand, Funda Meric-Bernstam, Ken Chen, Ilya Shmulevich, Sharon E Plon, Feng Chen, Li Ding
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events...
April 5, 2018: Cell
https://www.readbyqxmd.com/read/29623350/group-selection-may-explain-cancer-predisposition-and-other-human-traits-evolution
#20
EDITORIAL
Konstantinos Voskarides
Group selection is a matter of acute controversy among evolutionary biologists. The most well-publicized debate in this regard is that between Edward O. Wilson and Richard Dawkins. As is widely known, Edward O. Wilson is very excited about the idea of social selection and eusociality; by contrast Richard Dawkins favors the idea of gene selection. As is often the case, the truth is somewhere in the middle. Evolution is most likely a multilevel procedure, where selection forces act on genes, individuals, and groups...
April 5, 2018: Journal of Molecular Evolution
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