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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/29029584/evidence-for-genetic-risk-contributing-to-long-term-adverse-treatment-effects-in-childhood-cancer-survivors
#1
Maria Monica Gramatges, Smita Bhatia
Survivors of childhood cancer are at increased risk for therapy-related morbidities and mortality. Although the demographic and clinical factors predicting the risk for long-term effects of cancer therapy are well known, the impact of genetic risk for specific late effects is less clearly defined. Here, we review the extant literature and recent research describing genetic modifiers to risk for the more common late effects of childhood cancer therapy. Results of this research support the need for clinical trials that attempt to further refine risk prediction by incorporating genetic testing into existing algorithms that are primarily based on clinical and demographic factors...
October 13, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/29025599/constitutional-mosaicism-of-a-de-novo-tp53-mutation-in-a-patient-with-bilateral-choroid-plexus-carcinoma
#2
Joanna Trubicka, Iwona Filipek, Iwanowski Piotr, Małgorzata Rydzanicz, Wiesława Grajkowska, Dorota Piekutowska-Abramczuk, Krystyna Chrzanowska, Agnieszka Karkucińska-Więckowska, Katarzyna Iwanicka-Pronicka, Maciej Pronicki, Maria Łastowska, Rafał Płoski, Bożenna Dembowska-Bagińska
Choroid plexus tumors (CPT) constitute 2%-5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the number of TP53 carriers might be underestimated due to suboptimal ability of Sanger sequencing to identify mosaicism. We describe an 18-month-old boy with ultra-rare, bilateral disseminated CPC and negative family history of cancer. Next generation sequencing (NGS) revealed constitutional mosaicism of de novo TP53 mutation, which was barely detectable by Sanger sequencing...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025590/identification-of-pathogenic-retrotransposon-insertions-in-cancer-predisposition-genes
#3
Yaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, Hannah C Cox, Krystal Brown, Maria Elias, Nanda Singh, Courtney Daniels, Jayson Holladay, Bradford Coffee, Karla R Bowles, Benjamin B Roa
Cancer risks have been previously reported for some retrotransposon element (RE) insertions; however, detection of these insertions is technically challenging and very few oncogenic RE insertions have been reported. Here we evaluate RE insertions identified during hereditary cancer genetic testing using a comprehensive testing strategy. Individuals who had single-syndrome or pan-cancer hereditary cancer genetic testing from February 2004 to March 2017 were included. RE insertions were identified using Sanger sequencing, Next Generation Sequencing, or multiplex quantitative PCR, and further characterized using targeted PCR and sequencing analysis...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025585/genetic-gastric-cancer-susceptibility-in-the-international-clinical-cancer-genomics-community-research-network
#4
Thomas Slavin, Susan L Neuhausen, Christina Rybak, Ilana Solomon, Bita Nehoray, Kathleen Blazer, Mariana Niell-Swiller, Aaron W Adamson, Yate-Ching Yuan, Kai Yang, Sharon Sand, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Tanya Chavez, Yanghee Woo, Joseph Chao, Pamela Mora, Darling Horcasitas, Jeffrey Weitzel
Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n = 51), were retrospectively selected. For those without previously identified germline mutations (n = 43), sequencing was performed for 706 candidate genes. Twenty pathogenic or likely pathogenic variants were identified among 18 participants...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29020660/identification-of-twenty-nine-novel-germline-unclassified-variants-of-brca1-and-brca2-genes-in-1400-italian-individuals
#5
Concetta Santonocito, Margherita Scapaticci, Donatella Guarino, Andrea Bartolini, Angelo Minucci, Paola Concolino, Giovanni Scambia, Ida Paris, Ettore Capoluongo
OBJECTIVES: Breast and/or ovarian cancers are complex multifactorial diseases caused by interaction of both genetic and non-genetic factors and characterized by predisposition to inheritance. BRCA1 and BRCA2 genes are the most clinically involved with these kinds of cancer and the spectrum of variants affecting these genes is very wide. In fact, point variants, large or small insertions/deletions, genomic rearrangements can be found in these patients, although a large number of variants with uncertain biological and clinical significance continues to be identified...
October 8, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/29020621/fanconi-anemia-associated-mutations-destabilize-rad51-filaments-and-impair-replication-fork-protection
#6
Karina Zadorozhny, Vincenzo Sannino, Ondrej Beláň, Jarmila Mlčoušková, Mário Špírek, Vincenzo Costanzo, Lumír Krejčí
Fanconi anemia (FA) is a genetic disorder characterized by a defect in DNA interstrand crosslink (ICL) repair, chromosomal instability, and a predisposition to cancer. Recently, two RAD51 mutations were reported to cause an FA-like phenotype. Despite the tight association of FA/HR proteins with replication fork (RF) stabilization during normal replication, it remains unknown how FA-associated RAD51 mutations affect replication beyond ICL lesions. Here, we report that these mutations fail to protect nascent DNA from MRE11-mediated degradation during RF stalling in Xenopus laevis egg extracts...
October 10, 2017: Cell Reports
https://www.readbyqxmd.com/read/28984800/pediatric-cancer-genetics
#7
Sarah J Dean, Meagan Farmer
PURPOSE OF REVIEW: The current review will focus on the current knowledge of the contribution of both germline and somatic mutations to the development and management of cancer in pediatric patients. RECENT FINDINGS: It has long been thought that genetic mutations in both germline and somatic cells can contribute to the development of cancer in pediatric patients. With the recent advances in genomic technologies, there are now over 500 known cancer predisposition genes...
October 4, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28975126/pattern-of-occurrence-and-treatment-outcome-of-second-primary-malignancies-a-single-center-experience
#8
Prekshi Chaudhary, Sweety Gupta, Nitin Leekha, Ruchir Tandon, Malay Nandy, Sudarsan De
BACKGROUND: The incidence of cancer survivors is increasing, but these individuals, unfortunately, face the risk of second primary malignancies (SPMs). This increasing incidence can be credited to increased survival rates of cancer patients, environmental factors, host factors, and genetic predispositions. Hence, vigilance on the part of the patient as well as clinician for the development of new signs and symptoms is mandatory. AIMS: Retrospective analysis of the pattern of incidence and clinical outcome of patients diagnosed with SPM and to review the literature...
July 2017: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/28973655/clinical-and-molecular-features-of-renal-and-phaeochromocytoma-paraganglioma-tumour-association-syndrome-raptas-case-series-and-literature-review
#9
Ruth T Casey, Anne Y Warren, Jose Ezequiel Rodrigues, Benjamin G Challis, Eleanor Rattenberry, James Whitworth, Katrina A Andrews, Thomas Roberts, Graeme R Clark, Hannah West, Philip S Smith, France M Docquier, Fay Rodger, Vicki Murray, Helen L Simpson, Yvonne Wallis, Olivier Giger, Maxine Tran, Susan Tomkins, Grant D Stewart, Soo-Mi Park, Emma R Woodward, Eamonn R Maher
Context: The co-occurrence of phaeochromocytoma and renal tumours was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease over six decades ago. Subsequently, other shared genetic causes of predisposition to renal tumours and to phaeochromocytoma (PC), paraganglioma (PGL) or head and neck paraganglioma (HNPGL) have been described but case series of non-VHL-related cases of renal tumour and phaeochromocytoma/paraganglioma tumour association syndrome (RAPTAS), are rare...
July 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28973356/setd6-dominant-negative-mutation-in-familial-colorectal-cancer-type-x
#10
Lorena Martín-Morales, Michal Feldman, Zlata Vershinin, Pilar Garre, Trinidad Caldés, Dan Levy
Familiar colorectal cancer type X (FCCTX) comprises families that fulfill the Amsterdam criteria for hereditary non-polyposis colorectal cancer, but that lack the mismatch repair deficiency that defines Lynch syndrome. Thus, the genetic cause that increases the predisposition to colorectal and other related cancers in families with FCCTX remains to be elucidated. Using whole-exome sequencing, we have identified a truncating mutation in the SETD6 gene (c.791_792insA, p.Met264IlefsTer3) in all the affected members of a FCCTX family...
August 30, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28970858/a-novel-germline-mutation-in-brca1-causes-exon-20-skipping-in-a-korean-family-with-a-history-of-breast-cancer
#11
Kyong-Ah Yoon, Sun-Young Kong, Eun Ji Lee, Jeong Nam Cho, Suhwan Chang, Eun Sook Lee
Germline mutations in the BRCA1 and BRCA2 genes are strong genetic factors for predispositions to breast, ovarian, and other related cancers. This report describes a family with a history of breast and ovarian cancers that harbored a novel BRCA1 germline mutation. A single nucleotide deletion in intron 20, namely c.5332+4delA, was detected in a 43-year-old patient with breast cancer. This mutation led to the skipping of exon 20, which in turn resulted in the production of a truncated BRCA1 protein that was 1773 amino acids in length...
September 2017: Journal of Breast Cancer
https://www.readbyqxmd.com/read/28969913/genetic-predisposition-to-bevacizumab-induced-hypertension
#12
Melissa K Frey, Fanny Dao, Narciso Olvera, Jason A Konner, Maura N Dickler, Douglas A Levine
OBJECTIVE: Bevacizumab, a monoclonal antibody to VEGF, has shown efficacy in ovarian, cervical and endometrial cancer in addition to several other solid tumors. Serious side effects include hypertension, proteinuria, bowel perforation, and thrombosis. We tested the hypothesis that genetic variation in hypertension-associated genes is associated with bevacizumab-induced hypertension (BIH). METHODS: Patients with solid tumors treated with bevacizumab in combination with other therapy were identified from six clinical trials...
September 29, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28968711/spectrum-of-germline-mutations-in-smokers-and-non-smokers-in-brazilian-non-small-lung-cancer-nsclc-patients
#13
Patrícia P Couto, Luciana Bastos-Rodrigues, Hagit Schayek, Flavia M Melo, Raony G C Lisboa, Debora M Miranda, Alyne Vilhena, Allen E Bale, Eitan Friedman, Luiz De Marco
Lung cancer (LC) is a leading cause of cancer-related mortality. While smoking is the major risk factor, ~15% of all cases occur in never smokers, suggesting that genetic factors play a role in LC predisposition. Indeed, germline mutations in the TP53 gene predispose to multiple cancer types, including LC. To date, few studies compared the somatic and germline mutational profiles of LC cases by smoking status, and none was reported in Brazilians. Whole Exome Sequencing (WES) was performed on two pools (7 smokers, 6 non-smokers) of tumor-derived DNA using the Illumina HiSeq2000 platform...
August 31, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28961279/the-frequency-of-cancer-predisposition-gene-mutations-in-hereditary-breast-and-ovarian-cancer-patients-in-taiwan-from-brca1-2-to-multi-gene-panels
#14
Pi-Lin Sung, Kuo-Chang Wen, Yi-Jen Chen, Ta-Chung Chao, Yi-Fang Tsai, Ling-Ming Tseng, Jian-Tai Timothy Qiu, Kuan-Chong Chao, Hua-Hsi Wu, Chi-Mu Chuang, Peng-Hui Wang, Chi-Ying F Huang
An important role of genetic factors in the development of breast cancer (BC) or ovarian cancer (OC) in Taiwanese (ethnic Chinese) patients has been suggested. However, other than germline BRCA1 or BRCA2 mutations, which are related to hereditary breast-ovarian cancer (HBOC), cancer-predisposition genes have not been well studied in this population. The aim of the present study was to more accurately summarize the prevalence of genetic mutations in HBOC patients using various gene panels ranging in size from BRCA1/2 alone to multi-gene panels...
2017: PloS One
https://www.readbyqxmd.com/read/28948003/the-hedgehog-gli-pathway-in-embryonic-development-and-cancer-implications-for-pulmonary-oncology-therapy
#15
REVIEW
Leonel Armas-López, Joaquín Zúñiga, Oscar Arrieta, Federico Ávila-Moreno
Transcriptional regulation and epigenetic mechanisms closely control gene expression through diverse physiological and pathophysiological processes. These include the development of germ layers and post-natal epithelial cell-tissue differentiation, as well as, involved with the induction, promotion and/or progression of human malignancies. Diverse studies have shed light on the molecular similarities and differences involved in the stages of embryological epithelial development and dedifferentiation processes in malignant tumors of epithelial origin, of which many focus on lung carcinomas...
September 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28944232/mutational-analysis-of-brca1-and-brca2-genes-in-peruvian-families-with-hereditary-breast-and-ovarian-cancer
#16
Jose Buleje, Maria Guevara-Fujita, Oscar Acosta, Francia D P Huaman, Pierina Danos, Alexis Murillo, Joseph A Pinto, Jhajaira M Araujo, Alfredo Aguilar, Jaime Ponce, Carlos Vigil, Carlos Castaneda, Gabriela Calderon, Henry L Gomez, Ricardo Fujita
BACKGROUND: Breast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to BRCA1 and BRCA2 germline mutations. METHODS: We performed a comprehensive analysis of BRCA1 and BRCA2 genes by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28942353/molecular-basis-of-the-human-ribosomopathy-shwachman-diamond-syndrome
#17
REVIEW
Alan J Warren
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often associated with an increased risk of cancer. Ribosomes are the essential macromolecular machines that read the genetic code in all cells in all kingdoms of life. Following pre-assembly in the nucleus, precursors of the large 60S and small 40S ribosomal subunits are exported to the cytoplasm where the final steps in maturation are completed. Here, I review the recent insights into the conserved mechanisms of ribosome assembly that have come from functional characterisation of the genes mutated in human ribosomopathies...
September 6, 2017: Advances in Biological Regulation
https://www.readbyqxmd.com/read/28939999/our-genes-our-selves-hereditary-breast-cancer-and-biological-citizenship-in-norway
#18
Pål Møller, Eivind Hovig
The concept 'hereditary breast cancer' is commonly used to delineate a group of people genetically at risk for breast cancer-all of whom also having risk for other cancers. People carrying pathogenic variants of the BRCA1 and BRCA2 genes are often referred to as those having predisposition for 'hereditary breast cancer'. The two genes, however, are when altered, associated with different risks for and dying from breast cancer. The main risk for dying for carriers of both genes is from ovarian cancer. These biological facts are of philosophical interest, because they are the facts underlying the public debate on BRCA1/2 genetic testing as a model for the discussion of how to implement genetic knowledge and technologies in personalized medicine...
September 22, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28931550/variation-in-akt-protein-kinases-in-human-populations
#19
Peter Rotwein
The three AKT kinases are related proteins that are essential for normal growth and metabolic regulation, and are implicated as key signaling mediators in many physiological and patho-physiological processes. Each AKT is activated by common biochemical signals that act downstream of growth factor and hormone receptors via phosphatidylinositol-3 kinase, and each controls several downstream pathways. The importance of AKT actions in human physiology is strengthened by the rarity of modifying mutations in their genes, and by the devastating impact caused by these mutations on growth and development, and in disorders such as cancer...
September 20, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#20
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
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