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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/28531214/suspected-lynch-syndrome-associated-msh6-variants-a-functional-assay-to-determine-their-pathogenicity
#1
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nonsense and frameshift mutations that clearly abrogate MMR activity. However, missense mutations whose functional implications are unclear are also frequently seen in suspected-LS patients. To conclusively diagnose LS and enroll patients in appropriate surveillance programs to reduce morbidity as well as mortality, the functional consequences of these variants of uncertain clinical significance (VUS) must be defined...
May 22, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28529006/validation-of-a-next-generation-sequencing-pipeline-for-the-molecular-diagnosis-of-multiple-inherited-cancer-predisposing-syndromes
#2
Paula Paulo, Pedro Pinto, Ana Peixoto, Catarina Santos, Carla Pinto, Patrícia Rocha, Isabel Veiga, Gabriela Soares, Catarina Machado, Fabiana Ramos, Manuel R Teixeira
Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with phenotypically overlapping characteristics. Herein, we established a next-generation sequencing analysis pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes using the commercially available target sequencing panel TruSight Cancer...
May 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28526081/comprehensive-detection-of-germline-variants-by-msk-impact-a-clinical-diagnostic-platform-for-solid-tumor-molecular-oncology-and-concurrent-cancer-predisposition-testing
#3
Donavan T Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E Robson, Kenneth Offit, Michael F Berger, Khedoudja Nafa, Marc Ladanyi, Liying Zhang
BACKGROUND: The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mutation in a cancer predisposition gene is not only diagnostic for a cancer predisposition syndrome, but also has significant clinical implications in the clinical management of patients and their families. METHODS: Here, we evaluated the performance of MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) in detecting genetic alterations in 76 genes implicated in cancer predisposition syndromes...
May 19, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28525381/the-cell-of-origin-dictates-the-temporal-course-of-neurofibromatosis-1-nf1-low-grade-glioma-formation
#4
Anne C Solga, Joseph A Toonen, Yuan Pan, Patrick J Cimino, Yu Ma, Guillaume A Castillon, Scott M Gianino, Mark H Ellisman, Da Yong Lee, David H Gutmann
Low-grade gliomas are one of the most common brain tumors in children, where they frequently form within the optic pathway (optic pathway gliomas; OPGs). Since many OPGs occur in the context of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome, we have previously employed Nf1 genetically-engineered mouse (GEM) strains to study the pathogenesis of these low-grade glial neoplasms. In the light of the finding that human and mouse low-grade gliomas are composed of Olig2+ cells and that Olig2+ oligodendrocyte precursor cells (OPCs) give rise to murine high-grade gliomas, we sought to determine whether Olig2+ OPCs could be tumor-initiating cells for Nf1 optic glioma...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28513410/-what-if-the-sperm-donor-has-a-hereditary-disease-informed-consent-needed-for-sharing-medical-information
#5
J J van der Smagt, L C Govaerts, S G M Frints
There are no regulations in the Netherlands regarding the exchange of important genetic information that has become available after the birth of a child conceived with donor gametes. This may lead to difficult situations such as when the gamete donor is found to suffer from a genetic cancer-predisposition disorder. Genetic information about the donor that becomes available later may be of great importance to donor offspring. Genetic information uncovered in the donor child may likewise be of importance to legal offspring of the gamete donor...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28508326/the-association-of-low-penetrance-genetic-risk-modifiers-with-colorectal-cancer-in-lynch-syndrome-patients-a-systematic-review-and-meta-analysis
#6
REVIEW
Neil Donald, Salim Malik, Joshua L McGuire, Kevin J Monahan
Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome accounting for approximately 1000 cases of colorectal cancer (CRC) in the UK annually. LS is characterised by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. The penetrance is highly variable and the reasons for this have not been fully elucidated. This study investigates whether low penetrance genetic risk factors may result in phenotype modification in LS patients. To conduct a systematic literature review and meta-analysis to assess the association between low penetrance genetic risk modifiers and CRC in LS patients...
May 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#7
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503720/contribution-of-germline-mutations-in-cancer-predisposition-genes-to-tumor-etiology-in-young-women-diagnosed-with-invasive-breast-cancer
#8
Seth K Rummel, Leann Lovejoy, Craig D Shriver, Rachel E Ellsworth
PURPOSE: Although breast cancer in young women accounts for <10% of diagnoses annually, tumors in young patients exhibit more aggressive characteristics and higher mortality rates. Determination of the frequency of germline mutations in cancer predisposition genes is needed to improve the understanding of breast cancer etiology in young women. METHODS: All female patients enrolled in the Clinical Breast Cancer Project between 2001 and 2015 and diagnosed with invasive breast cancer before age 40 were included in this study...
May 13, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28502729/improving-mutation-screening-in-patients-with-colorectal-cancer-predisposition-using-next-generation-sequencing
#9
Jean-Marc Rey, Vincent Ducros, Pascal Pujol, Qing Wang, Marie-Pierre Buisine, Hanaa Aissaoui, Thierry Maudelonde, Sylviane Olschwang
Identification of genetic alterations is important for family risk assessment in colorectal cancers. Next-generation sequencing (NGS) technologies provide useful tools for single-nucleotide and copy number variation (CNV) identification in many genes and samples simultaneously. Herein, we present the validation of current Multiplicom MASTR designs of mismatch repair combined to familial adenomatous polyposis genes in a single PCR reamplification test for eight DNA samples simultaneously on a MiSeq apparatus...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28499535/cancer-recognition-and-screening-for-common-breast-disorders-and-malignancy
#10
REVIEW
Constance Bohon
Breast cancer is predicted to be the most common newly diagnosed cancer in women in 2016. Screening mammography is the most commonly used method for the detection of breast cancer in women of average risk. A genetic risk assessment is recommended for women with a greater than 20% to 25% chance of having a predisposition to breast and ovarian cancer. Evaluation of a breast mass begins with a detailed history, assessment for cancer risk, and physical examination.
June 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/28499267/a-novel-germline-tp53-mutation-p-pro190arg-detected-in-a-patient-with-lung-and-bilateral-breast-cancers
#11
Małgorzata Krześniak, Dorota Butkiewicz, Jadwiga Rachtan, Iwona Matuszczyk, Ewa Grzybowska, Marek Rusin
PURPOSE: Li-Fraumeni syndrome (LFS) is a rare genetic disease with strong predispositions to multiple early-onset neoplasms, mostly sarcomas, breast cancers, brain tumors and adrenocortical carcinomas (LFS core cancers). In most LFS families the germline mutations of TP53 tumor suppressor gene were found. Lung cancer does not belong to the core cancers of LFS, however its higher incidence is observed in families with TP53 mutations. Our aim was to search for TP53 mutations in female lung cancer patients whose clinico-demographic characteristics suggested a probable genetic predisposition to the disease...
May 9, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28498244/identifying-lynch-syndrome-in-women-presenting-with-endometrial-carcinoma-under-the-age-of-50-years
#12
Antonios Anagnostopoulos, Vicky H McKay, Iris Cooper, Fiona Campbell, Lynn Greenhalgh, John Kirwan
BACKGROUND: Lynch syndrome (LS) is an inherited disorder associated with genetic predisposition to endometrial, colorectal, ovarian, and other cancers. There is consensus for the necessity of assessment for LS in view of the established survival benefits for identified patients and affected family members. The debate regarding the best screening policy is far from being concluded. OBJECTIVES: The aim of this study was to evaluate a realistic protocol for identifying LS families by assessing young women with a diagnosis of endometrial cancer (EC)...
June 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28487205/mitochondrial-determinants-of-cancer-health-disparities
#13
REVIEW
Aaheli Roy Choudhury, Keshav K Singh
Mitochondria are involved in the generation of energy, cell growth and differentiation, cellular signaling, cell cycle control, and cell death. To date, the mitochondrial basis of cancer disparities is unknown. The goal of this review is to provide an understanding and a framework of mitochondrial determinants that may contribute to cancer disparities in racially different populations. Mitochondria, which are multi-functional, have been implicated in the initiation and progression of cancers in relation to metabolic alterations in transformed cells...
May 6, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/28482042/bap1-mutations-in-high-grade-meningioma-implications-for-patient-care
#14
Ganesh M Shankar, Sandro Santagata
We have recently shown that the BAP1 (BRCA1-associated protein-1) tumor suppressor gene is inactivated in a subset of clinically-aggressive meningiomas that display rhabdoid histomorphology. Immunohistochemistry for BAP1 protein provides a rapid and inexpensive method for screening suspected cases. Notably, some patients with BAP1-mutant meningiomas have germline BAP1 mutations and the BAP1 tumor predisposition syndrome (BAP1-TPDS). It appears that nearly all patients with germline BAP1 mutations develop malignancies by age 55, most frequently uveal melanoma, cutaneous melanoma, pleural or peritoneal malignant mesothelioma or renal cell carcinoma, although other cancers have also been associated with the BAP1-TPDS...
May 8, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28477117/studies-of-atm-kinase-activity-using-engineered-atm-sensitive-to-atp-analogues-atm-as
#15
Masato Enari, Yuko Matsushima-Hibiya, Makoto Miyazaki, Ryo Otomo
Ataxia-telangiectasia mutated (ATM) protein is a member of the phosphatidylinositol 3-phosphate kinase (PI3-K)-related protein kinase (PIKK) family and is implicated in the initiation of signaling pathways following DNA double strand breaks (DSBs) elicited by exposure to ionizing irradiation (IR) or radiomimetic compounds. Loss of function of the ATM gene product results in the human genetic disorder ataxia-telangiectasia (A-T) characterized by neurodegeneration, immunodeficiency, genomic instability, and cancer predisposition...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28471419/mitochondrial-deficiencies-in-the-predisposition-to-paraganglioma
#16
REVIEW
Charlotte Lussey-Lepoutre, Alexandre Buffet, Anne-Paule Gimenez-Roqueplo, Judith Favier
Paragangliomas and pheochromocytomas are rare neuroendocrine tumours with a very strong genetic component. It is estimated that around 40% of all cases are caused by a germline mutation in one of the 13 predisposing genes identified so far. Half of these inherited cases are intriguingly caused by mutations in genes encoding tricarboxylic acid enzymes, namely SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes, encoding succinate dehydrogenase and its assembly protein, FH encoding fumarate hydratase, and MDH2 encoding malate dehydrogenase...
May 4, 2017: Metabolites
https://www.readbyqxmd.com/read/28465630/pathogenesis-and-clinical-spectrum-of-primary-sclerosing-cholangitis
#17
REVIEW
Neelam G Gidwaney, Swati Pawa, Kiron M Das
Primary sclerosing cholangitis (PSC) is a disease of the biliary tract, which has been documented in the literature since 1867. This disease has a strong predilection for affecting men and can be seen in individuals as young as 2 years of age. PSC has a strong associated with inflammatory bowel disease, more commonly with ulcerative colitis, and is also part of the clinical spectrum of IgG4-related diseases. Small-duct PSC, a variant of PSC, also has an association with inflammatory bowel disease. The exact pathogenesis of PSC is not well understood at present, however, is likely a combination of a genetic predisposition with alteration of the molecular structure of the gut...
April 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28460635/transcriptomic-profiling-and-quantitative-high-throughput-qhts-drug-screening-of-cdh1-deficient-hereditary-diffuse-gastric-cancer-hdgc-cells-identify-treatment-leads-for-familial-gastric-cancer
#18
Ina Chen, Lesley Mathews-Greiner, Dandan Li, Abisola Abisoye-Ogunniyan, Satyajit Ray, Yansong Bian, Vivek Shukla, Xiaohu Zhang, Raj Guha, Craig Thomas, Berkley Gryder, Athina Zacharia, Joal D Beane, Sarangan Ravichandran, Marc Ferrer, Udo Rudloff
BACKGROUND: Patients with hereditary diffuse gastric cancer (HDGC), a cancer predisposition syndrome associated with germline mutations of the CDH1 (E-cadherin) gene, have few effective treatment options. Despite marked differences in natural history, histopathology, and genetic profile to patients afflicted by sporadic gastric cancer, patients with HDGC receive, in large, identical systemic regimens. The lack of a robust preclinical in vitro system suitable for effective drug screening has been one of the obstacles to date which has hampered therapeutic advances in this rare disease...
May 1, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28454847/inherited-mutations-in-dna-repair-genes-and-cancer-risk
#19
REVIEW
Nuria Romero-Laorden, Elena Castro
Although most cancer cases are due to somatic mutations, up to 10% of cases are attributable to germline mutations. This inherited cancer predisposition is mostly due to the loss of function of suppressor genes rather than the activation of oncogenes. Defects in DNA repair genes are the genetic events most commonly involved in hereditary cancers. The implementation of high-throughput sequencing in diagnostic testing has uncovered new predisposition genes. Furthermore, for some tumor types these sequencing techniques have also unveiled a prevalence of germline mutations significantly higher than previous estimations...
March 22, 2017: Current Problems in Cancer
https://www.readbyqxmd.com/read/28454591/lost-in-translation-returning-germline-genetic-results-in-genome-scale-cancer-research
#20
Amber L Johns, Skye H McKay, Jeremy L Humphris, Mark Pinese, Lorraine A Chantrill, R Scott Mead, Katherine Tucker, Lesley Andrews, Annabel Goodwin, Conrad Leonard, Hilda A High, Katia Nones, Ann-Marie Patch, Neil D Merrett, Nick Pavlakis, Karin S Kassahn, Jaswinder S Samra, David K Miller, David K Chang, Marina Pajic, John V Pearson, Sean M Grimmond, Nicola Waddell, Nikolajs Zeps, Anthony J Gill, Andrew V Biankin
BACKGROUND: The return of research results (RoR) remains a complex and well-debated issue. Despite the debate, actual data related to the experience of giving individual results back, and the impact these results may have on clinical care and health outcomes, is sorely lacking. Through the work of the Australian Pancreatic Cancer Genome Initiative (APGI) we: (1) delineate the pathway back to the patient where actionable research data were identified; and (2) report the clinical utilisation of individual results returned...
April 28, 2017: Genome Medicine
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