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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/29220288/contemporary-sarcoma-diagnosis-genetics-and-genomics
#1
Inga-Marie Schaefer, Gregory M Cote, Jason L Hornick
Sarcomas include diverse mesenchymal neoplasms with widely varied prognosis, clinical behavior, and treatment. Owing to their rarity and histologic overlap, accurate diagnosis of sarcomas can be challenging. Our approach has evolved dramatically in the past few decades, where novel insights into the molecular pathogenetic basis for sarcomas has dramatically (re)shaped contemporary diagnosis, building on a largely morphology- and clinical presentation-based strategy. Examples include the introduction of novel immunohistochemical markers that serve as surrogates for molecular genetic alterations and identification of characteristic molecular alterations...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29213343/exome-sequencing-characterizes-the-somatic-mutation-spectrum-of-early-serrated-lesions-in-a-patient-with-serrated-polyposis-syndrome-sps
#2
Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (BRAF, KRAS, RNF43 mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29207078/characterizing-key-nucleotide-polymorphisms-of-hepatitis-c-virus-disease-associations-via-mass-spectrometric-genotyping
#3
Yuta Horiuchi, Jason Lin, Yui Shinojima, Kyoko Fujiwara, Mitsuhiko Moriyama, Hiroki Nagase
As more than 80% of hepatocellular carcinoma patients in Japan also suffer from hepatitis C virus infections some time in their medical history, identifying genetic aberrations associated to hepatitis C virulence in these individuals remains a high priority in the diagnosis and treatment of hepatocellular carcinoma. From the BioBank Japan Project, we acquired 480 subjects of hepatocellular carcinoma, chronic hepatitis and liver cirrhosis, and genotyped 131 clinically relevant host single nucleotide polymorphisms to survey the potential association between certain risk alleles and genes to a patient's predisposition to hepatitis C and liver cancer...
November 22, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/29205368/cyclic-amp-dependent-protein-kinase-catalytic-subunit-a-prkaca-the-expected-the-unexpected-and-what-might-be-next
#4
Constantine A Stratakis
Protein kinase A (PKA) or cyclic-AMP (cAMP)-dependent kinase was among the first serine-threonine kinases to be molecularly and functionally characterized. For years, it was investigated as the enzyme that mediates cAMP functions in almost all cell systems and organisms studied to date. Despite PKA's critical role in signaling and the long history of investigations of cAMP in oncogenesis (dating back to the 1970's), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition...
December 4, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29191591/fine-mapping-the-mhc-region-in-asian-populations-identified-novel-variants-modifying-susceptibility-to-lung-cancer
#5
Na Qin, Cheng Wang, Meng Zhu, Qun Lu, Zijian Ma, Mingtao Huang, Juncheng Dai, Hongxia Ma, Guangfu Jin, Zhibin Hu, Hongbing Shen
OBJECTIVES: The polymorphic major histocompatibility complex (MHC) plays a vital role in the immune system and drives predisposition to multiple cancers. A number of lung cancer-related genetic variants in the MHC have been identified in recent genome-wide association studies; however, the causal variants remain unclear. MATERIALS AND METHODS: In the present study, we conducted a large-scale fine-mapping study of lung cancer in the MHC region of 13,945 unrelated Asian individuals to search for potential causal variants...
October 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29173771/genetic-predisposition-to-lung-adenocarcinoma-among-never-smoking-chinese-with-different-epidermal-growth-factor-receptor-mutation-status
#6
Li Han, Cheuk-Kwong Lee, Herbert Pang, Hong-Tou Chan, Iek-Long Lo, Sze-Kwan Lam, Tak-Hong Cheong, James Chung-Man Ho
OBJECTIVES: The inconsistent findings from genetic association studies may be related to the heterogeneity in different molecular subtypes of lung cancer. This study evaluated the predisposing single-nucleotide polymorphisms (SNPs) in epidermal growth factor receptor (EGFR) mutant and EGFR wild-type lung adenocarcinoma separately among never-smokers. MATERIALS AND METHODS: This was a two-stage case-control study. Never-smokers with pathologically confirmed lung adenocarcinoma and healthy controls were recruited in Hong Kong and Macau...
December 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29173061/targeted-sequencing-of-malignant-supratentorial-pediatric-brain-tumors-demonstrates-a-high-frequency-of-clinically-relevant-mutations
#7
Bonnie L Cole, Colin C Pritchard, Maia Anderson, Sarah Es Leary
Pediatric brain tumors cause more deaths than any other childhood malignancy, and the identification of potentially actionable genomic alterations in this rare heterogeneous group of tumors may improve treatment and outcome. The genetic landscape of common posterior fossa tumors has been described in the past several years, yet the classification of malignant pediatric supratentorial tumors remains controversial. Next-generation sequencing is a promising tool to evaluate multiple genes concurrently. The clinical utility of next-generation sequencing has not been proven in pediatric brain tumors...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29170059/the-clinical-potential-of-adipogenesis-and-obesity-related-micrornas
#8
REVIEW
M Zaiou, H El Amri, A Bakillah
Obesity is a growing health problem commonly associated with numerous metabolic disorders including type 2 diabetes, hypertension, cardiovascular disease, and some forms of cancer. The burden of obesity and associated cardiometabolic diseases are believed to arise through complex interplay between genetics and epigenetics predisposition, nutrition, environment, and lifestyle. However, the molecular basis and the repertoire of obesity-affecting factors are still unknown. Emerging evidence is connecting microRNAs (miRNAs) dysregulation with adipogenesis and obesity...
November 20, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29162161/international-szent-gy%C3%A3-rgyi-prize-for-progress-in-cancer-research-basic-and-translational-research-recognition-mary-claire-king-received-the-2016-prize-for-her-pioneering-research-that-demonstrated-the-first-evidence-of-genetic-predisposition-to-breast-cancer
#9
EDITORIAL
Hali Hartmann, Jie Zhao, Sujuan Ba
The Szent-Györgyi Prize for Progress in Cancer Research is a prestigious scientific award sponsored by the National Foundation for Cancer Research (NFCR)-a leading cancer research charitable organization in the United States that supports innovative cancer research globally with the ultimate goal to cure cancer. The coveted Szent-Györgyi Prize annually honors a scientist whose seminal discovery or body of work has resulted in, or led toward, notable contributions to cancer prevention, diagnosis, or treatment; and the discovery has had a high direct impact of saving people's lives...
November 21, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/29158289/next-generation-panel-sequencing-identifies-nf1-germline-mutations-in-three-patients-with-pheochromocytoma-but-no-clinical-diagnosis-of-neurofibromatosis-type-1
#10
Laura Gieldon, Jimmy Rusdian Masjkur, Susan Richter, Roland Därr, Marcos Lahera, Daniela E Aust, Silke Zeugner, Andreas Rump, Karl Hackmann, Andreas Tzschach, Andrzej Januszewicz, Aleksander Prejbisz, Graeme Eisenhofer, Evelin Schroeck, Mercedes Robledo, Barbara Klink
Objective Our objective was to improve molecular diagnostics in patients with hereditary pheochromocytoma and paraganglioma (PPGL) by using next generation sequencing (NGS) multi-gene panel analysis. Derived from this study we here present three cases that were diagnosed with NF1 germline mutations but did not have a prior clinical diagnosis of Neurofibromatosis Type 1 (NF1). Design We performed genetic analysis of known tumor predisposition genes, including NF1, using a multi-gene NGS enrichment-based panel applied to a total of 1029 PPGL patients...
November 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29156196/familial-myelodysplastic-syndrome-acute-myeloid-leukemia
#11
REVIEW
Jane E Churpek
A growing number of inherited genetic loci that contribute to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) development in both children as well as adults are rapidly being identified. In recognition of the clinical impact of this emerging field, the World Health Organization, National Comprehensive Cancer Network, and European LeukemiaNet have all added consideration of inherited predisposition to MDS/AML classification and management. Study of these disorders is providing unique insight into the biology of both sporadic and familial MDS/AML...
December 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29146522/germline-genetic-features-of-young-individuals-with-colorectal-cancer
#12
Elena M Stoffel, Erika Koeppe, Jessica Everett, Peter Ulintz, Mark Kiel, Jenae Osborne, Linford Williams, Kristen Hanson, Stephen B Gruber, Laura S Rozek
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) in individuals younger than 50 years old is increasing. We sought to ascertain the proportion of young CRC cases associated with genetic predisposition. METHODS: We performed a retrospective study of individuals diagnosed with CRC at an age younger than 50 years, evaluated by the clinical genetics service at a single tertiary care cancer center from 1998 through 2015. We collected data on patient histories, tumor phenotypes, and results of germline DNA sequencing...
November 12, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29142587/factors-associated-with-the-high-prevalence-of-oesophageal-cancer-in-western-kenya-a-review
#13
REVIEW
Gabriel Kigen, Naftali Busakhala, Zipporah Kamuren, Hillary Rono, Wilfred Kimalat, Evangeline Njiru
Oesophageal carcinoma (OC) is highly prevalent in Western Kenya especially among the members of the Kalenjin community who reside in the Northern and Southern areas of the Rift Valley. Previous authors have suggested potential association of environmental and genetic risk factors with this high prevalence. The environmental factors that have been suggested include contamination of food by mycotoxins and/or pesticides, consumption of traditional alcohol (locally referred to "Busaa" and "Chan'gaa"), use of fermented milk ("Mursik"), poor diet, tobacco use and genetic predisposition...
2017: Infectious Agents and Cancer
https://www.readbyqxmd.com/read/29139277/tailor-management-to-the-patient-with-fibroids
#14
Marie O'Sullivan, Caroline Overton
Fibroids are benign, hormone-dependent tumours of uterine smooth muscle and connective tissue. They are commonly asymptomatic, but can cause symptoms such as heavy menstrual bleeding and pelvic pressure symptoms. Between 20 to 30% of women with heavy menstrual bleeding have fibroids. Fibroids are most prevalent in women aged 30-50 years and there may be a genetic predisposition. They are more common in black women than white women. Other risk factors include obesity and nulliparity. Asymptomatic women should only be referred if their uterus is palpable abdominally, if fibroids distort the uterine cavity or the uterus is larger than 12 cm in length...
March 2017: Practitioner
https://www.readbyqxmd.com/read/29134650/thyroid-associated-genetic-polymorphisms-in-relation-to-breast-cancer-risk-in-the-malm%C3%A3-diet-and-cancer-study
#15
Jasmine Brandt, Signe Borgquist, Peter Almgren, Asta Försti, Linnea Huss, Olle Melander, Jonas Manjer
Previous studies have suggested that thyroid function is associated with breast cancer risk, which could have an important clinical impact, as one in eight women will develop a thyroid disorder during her lifetime. However, the underlying pathomechanism behind the association is still unknown. We used the Malmö Diet and Cancer Study (a population-based prospective study consisting of 17,035 women) to examine 17 single nucleotide polymorphisms (SNPs) previously related to levels of free thyroxine (free T4) and thyroid peroxidase antibodies (TPO-Ab) as potential genetic risk factors for breast cancer...
November 14, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29133208/homozygous-loss-of-function-brca1-variant-causing-a-fanconi-anemia-like-phenotype-a-clinical-report-and-review-of-previous-patients
#16
Bruna L Freire, Thais K Homma, Mariana F A Funari, Antônio M Lerario, Aline M Leal, Elvira D R P Velloso, Alexsandra C Malaquias, Alexander A L Jorge
BACKGROUND: Fanconi Anemia (FA) is a rare and heterogeneous genetic syndrome. It is associated with short stature, bone marrow failure, high predisposition to cancer, microcephaly and congenital malformation. Many genes have been associated with FA. Previously, two adult patients with biallelic pathogenic variant in Breast Cancer 1 gene (BRCA1) had been identified in Fanconi Anemia-like condition. CLINICAL REPORT: The proband was a 2.5 year-old girl with severe short stature, microcephaly, neurodevelopmental delay, congenital heart disease and dysmorphic features...
November 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29132681/-dna-repair-as-a-therapeutic-target
#17
REVIEW
Lauriane Eberst, Medhi Brahmi, Philippe A Cassier
The transmission of an intact and stable genetic code at each cell division relies on different DNA repair systems. Germline mutations of some of these genes cause cancer predisposition, whereas somatic mutations are frequently found in various cancer types, generating genomic instability. As a consequence, cancer cell becomes more susceptible to additional DNA damage. Pharmacological inhibition of DNA repair pathways exploits this frailty: it triggers more damages than cancer cell can tolerate, finally leading to apoptosis...
November 10, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/29132555/considerations-in-testing-for-inherited-breast-cancer-predisposition-in-the-era-of-personalized-medicine
#18
REVIEW
Benjamin Powers, Tuya Pal, Christine Laronga
Technological advances realized through next-generation sequencing technologies coupled with the loss of the ability to patent genes have led to reduction in costs for genetic testing. As a result, more people are being identified with inherited breast cancer syndromes that may affect recommendations for surveillance and risk reduction. Surgeons, at the forefront for patients newly diagnosed with breast cancer, must keep current with the changing landscape of genetics to continue to provide appropriate counsel and care...
January 2018: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/29132523/pancreatitis-and-pancreatic-cancer
#19
REVIEW
Anne Walling, Robert Freelove
Most cases of acute pancreatitis are related to gallstones. More than 80% resolve within a few days. The diagnosis is based on upper abdominal pain, elevated lipase and/or amylase, and transabdominal ultrasound findings. Management requires early aggressive hydration, pain control, nutritional support, and monitoring for progression. Patients who develop hypovolemia, systemic inflammatory response, pancreatic necrosis, and organ failure have high mortality, risk of recurrence, and progression to chronic pancreatitis (CP)...
December 2017: Primary Care
https://www.readbyqxmd.com/read/29131100/association-of-p53-codon-72-polymorphism-with-breast-cancer-in-a-rwandese-population
#20
Thierry Habyarimana, Mohammed Attaleb, Pacifique Mugenzi, Jean Baptiste Mazarati, Youssef Bakri, Mohammed El Mzibri
BACKGROUND AND AIMS: A common polymorphism in the tumor suppressor gene p53 at codon 72 has been suggested to play a role in the development of a number of cancers. This polymorphism has been studied in many populations worldwide, with conflicting results. The present study was planned to assess the association of p53 codon 72 polymorphism with breast cancer development in a Rwandese population. METHODS: In this study, the polymorphism was examined by allele-specific PCR analysis in 40 patients with breast cancer and 39 healthy controls...
November 1, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
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