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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/29687286/the-brca1-and-brca2-genes-in-early-onset-breast-cancer-patients
#1
Mohamed Saleem, Mohd Bazli Ghazali, Md Azlan Mohamed Abdul Wahab, Narazah Mohd Yusoff, Hakimah Mahsin, Ch'ng Ewe Seng, Imran Abdul Khalid, Mohd Nor Gohar Rahman, Badrul Hisham Yahaya
Approximately 5-10% of breast cancers are attributable to genetic susceptibility. Mutations in the BRCA1 and BRCA2 genes are the best known genetic factors to date. The goal of this study was to determine the structure and distribution of haplotypes of the BRCA1 and BRCA2 genes in early-onset breast cancer patients. We enrolled 70 patients diagnosed with early-onset breast cancer. A total of 21 SNPs (11 on BRCA1 and 10 on BRCA2) and 1 dinucleotide deletion on BRCA1 were genotyped using nested allele-specific PCR methods...
April 24, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29684080/unexpected-cancer-predisposition-gene-variants-in-cowden-syndrome-and-bannayan-riley-ruvalcaba-syndrome-patients-without-underlying-germline-pten-mutations
#2
Lamis Yehia, Ying Ni, Kaitlin Sesock, Farshad Niazi, Benjamin Fletcher, Hannah JinLian Chen, Thomas LaFramboise, Charis Eng
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations in other known cancer susceptibility genes has not been explored in these patients, with implications for different medical management. We conducted a 4-year multicenter prospective study of incident patients with features of Cowden/Cowden-like (CS/CS-like) and Bannayan-Riley-Ruvalcaba syndromes (BRRS) without PTEN mutations...
April 23, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29682723/improving-the-detection-of-patients-with-inherited-predispositions-to-hematologic-malignancies-using-next-generation-sequencing-based-leukemia-prognostication-panels
#3
REVIEW
Courtney D DiNardo, Mark J Routbort, Sarah A Bannon, Christopher B Benton, Koichi Takahashi, Steve M Kornblau, Rajyalakshmi Luthra, Rashmi Kanagal-Shamanna, L Jeffrey Medeiros, Guillermo Garcia-Manero, Hagop Kantarjian, P Andrew Futreal, Funda Meric-Bernstam, Keyur P Patel
Recognizing and referring patients with possible inherited cancer predisposition syndromes for appropriate genetic evaluation and testing provides insights into optimal patient treatment approaches and also can provide education and testing opportunities for family members. Next-generation sequencing (NGS)-based, targeted genotyping for somatic mutations is increasingly used in the diagnosis, prognostication, and treatment selection for patients with hematologic malignancies. However, certain mutations that may be somatically acquired can also be present as germline mutations in some individuals and families...
April 6, 2018: Cancer
https://www.readbyqxmd.com/read/29679366/blood-group-and-incidence-of-asthma-and-chronic-obstructive-pulmonary-disease
#4
Bożena Mroczek, Zygmunt Sitko, Agnieszka Sujewicz, Weronika Wolińska, Iwona Karpeta-Pawlak, Donata Kurpas
Chronic respiratory diseases are determined by genetic predisposition, and environmental and socioeconomic variables. One genetic factor underlying susceptibility to such diseases can be the ABO blood group system. The purpose of this study was to investigate the hypothesis that there would be a relationship between the blood group and risk of developing asthma and chronic obstructive pulmonary disease (COPD). We reviewed medical history files of patients with the diagnosis of COPD or asthma, including those suffering from a cancerous disease accompanied by asthma or COPD, hospitalized from January 2016 to July 2017...
April 21, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29668499/tumor-syndromes-predisposing-to-osteosarcoma
#5
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/29661970/consensus-for-genes-to-be-included-on-cancer-panel-tests-offered-by-uk-genetics-services-guidelines-of-the-uk-cancer-genetics-group
#6
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/29659569/targeted-next-generation-sequencing-identifies-functionally-deleterious-germline-mutations-in-novel-genes-in-early-onset-familial-prostate-cancer
#7
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
#8
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
#9
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/29651209/polymorphic-variation-in-double-strand-break-repair-gene-in-indian-population-a-comparative-approach-with-worldwide-ethnic-group-variations
#10
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/29642776/the-pink-underside-the-commercialization-of-medical-risk-assessment-and-decision-making-tools-for-hereditary-breast-cancer-risk
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/29615542/associations-between-lncrna-meg3-polymorphisms-and-neuroblastoma-risk-in-chinese-children
#15
Zhen-Jian Zhuo, Ruizhong Zhang, Jiao Zhang, Jinhong Zhu, Tianyou Yang, Yan Zou, Jing He, Huimin Xia
Neuroblastoma is the third most common childhood cancer after leukemias and cancer of the central nervous system. Long noncoding RNA MEG3 polymorphisms have been shown to confer cancer susceptibility; however, their roles in the genetic predisposition to neuroblastoma remain unclarified. To answer this question, we genotyped two MEG3 polymorphisms, rs7158663 G>A and rs4081134 G>A, in 392 neuroblastoma children and 783 controls by TaqMan method. The results showed that neither single locus nor the combination analysis supported an association between MEG3 polymorphism and neuroblastoma risk...
March 27, 2018: Aging
https://www.readbyqxmd.com/read/29615301/early-onset-sporadic-colorectal-cancer-worrisome-trends-and-oncogenic-features
#16
REVIEW
Giulia Martina Cavestro, Alessandro Mannucci, Raffaella Alessia Zuppardo, Milena Di Leo, Elena Stoffel, Giovanni Tonon
Early onset colorectal cancers, defined as arising before 50 years of age, are a growing health hazard in western and eastern countries alike. The incidence of colon and rectal cancers in young individuals is projected to increase by as much as 90% and 140%, respectively, by 2030. Although several known cancer risk factors (e.g. smoking, alcohol, dietary habits) have been investigated, there is no single compelling explanation for this epidemiological trend. While some early onset colorectal cancers have been associated with germline mutations in cancer predisposition genes, genetic syndromes are implicated in only a fraction of these cancers (20%) and do not explain the rising incidence...
February 23, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29614442/the-role-of-genomic-profiling-in-adolescents-and-young-adults-ayas-with-advanced-cancer-participating-in-phase-i-clinical-trials
#17
Terri Patricia McVeigh, Raghav Sundar, Nikolaos Diamantis, Stan B Kaye, Udai Banerji, Juanita S Lopez, Johann de Bono, Winette T A van der Graaf, Angela J George
INTRODUCTION: Adolescents and young adults (AYAs) diagnosed with cancer between ages 15-39 years may harbour germline variants associated with cancer predisposition. Such variants represent putative therapeutic targets, as may somatic variants in the tumour. Germline and tumour molecular profiling is increasingly utilised to facilitate personalisation of cancer treatment in such individuals. AIM: Considering AYAs with advanced solid tumours managed in a specialist drug development unit (DDU), the aims of this study were to investigate the use and impact of: 1...
March 31, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29610394/bloom-syndrome-research-and-data-priorities-for-the-development-of-precision-medicine-as-identified-by-some-affected-families
#18
Mary Beth Campbell, Wesley C Campbell, James Rogers, Natalie Rogers, Zachary Rogers, Anne Marie van den Hurk, Annie Webb, Talon Webb, Paul Zaslaw
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age. Cancer is the leading cause of death for persons with BS, and its early onset results in a reported median lifespan of <30 years. With fewer than 300 documented cases since BS was first described in 1954, its rarity has challenged progress in advancing both the care of and the cure for persons with BS...
April 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29589100/genetic-susceptibility-to-neuroblastoma-current-knowledge-and-future-directions
#19
REVIEW
Laura E Ritenour, Michael P Randall, Kristopher R Bosse, Sharon J Diskin
Neuroblastoma, a malignancy of the developing peripheral nervous system that affects infants and young children, is a complex genetic disease. Over the past two decades, significant progress has been made toward understanding the genetic determinants that predispose to this often lethal childhood cancer. Approximately 1-2% of neuroblastomas are inherited in an autosomal dominant fashion and a combination of co-morbidity and linkage studies has led to the identification of germline mutations in PHOX2B and ALK as the major genetic contributors to this familial neuroblastoma subset...
March 27, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29582627/adh1b-aldh2-gstm1-and-gstt1-gene-polymorphic-frequencies-among-alcoholics-and-controls-in-the-arcadian-population-of-central-india
#20
Abdul Anvesh Mansoori, Subodh Kumar Jain
Background: Epidemiological research has highlighted the global burden of primary liver cancer cases due to alcohol consumption, even in a low consumption country like India. Alcohol detoxification is governed by ADH1B, ALDH2, GSTM1 and GSTT1 genes that encode functional enzymes which are coordinated with each other to remove highly toxic metabolites i.e. acetaldehyde as well as reactive oxygen species generated through detoxification processes. Some communities in the population appears to be at greater risk for development of the liver cancer due to genetic predispositions...
March 27, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
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