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Cowden Syndrome

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https://www.readbyqxmd.com/read/28822557/family-history-of-cancer-predicts-endometrial-cancer-risk-independently-of-lynch-syndrome-implications-for-genetic-counselling
#1
Sharon E Johnatty, Yen Y Tan, Daniel D Buchanan, Michael Bowman, Rhiannon J Walters, Andreas Obermair, Michael A Quinn, Penelope B Blomfield, Alison Brand, Yee Leung, Martin K Oehler, Judy A Kirk, Tracy A O'Mara, Penelope M Webb, Amanda B Spurdle
OBJECTIVE: To determine endometrial cancer (EC) risk according to family cancer history, including assessment by degree of relatedness, type of and age at cancer diagnosis of relatives. METHODS: Self-reported family cancer history was available for 1353 EC patients and 628 controls. Logistic regression was used to quantify the association between EC and cancer diagnosis in ≥1 first or second degree relative, and to assess whether level of risk differed by degree of relationship and/or relative's age at diagnosis...
August 16, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28755140/circulating-levels-of-pten-and-klln-in-papillary-thyroid-carcinoma-can-they-be-considered-as-novel-diagnostic-biomarkers
#2
S Adeleh Razavi, Mohammad Hossein Modarressi, Parichehr Yaghmaei, S Mohammad Tavangar, Mehdi Hedayati
PURPOSE: PTEN and KLLN are two tumor suppressor genes located in 10q23, share a bidirectional promoter and have roles in carcinogenesis. Formerly, the role of PTEN mutations and KLLN epimutations were identified in incidence of thyroid lesions in individuals with Cowden syndrome, a rare autosomal dominant inherited disorder. This study is the first of its type to assess PTEN and KLLN circulating levels in patients with sporadic papillary thyroid carcinoma (PTC) and compare to patients with multinodular goiter (MNG) and healthy individuals...
July 28, 2017: Endocrine
https://www.readbyqxmd.com/read/28741261/hereditary-breast-cancer-associated-with-cowden-syndrome-related-pten-mutation-with-lhermitte-duclos-disease
#3
Fuyo Kimura, Ai Ueda, Eiichi Sato, Jiro Akimoto, Hiroshi Kaise, Kimito Yamada, Mari Hosonaga, Yuko Kawai, Saeko Teraoka, Miki Okazaki, Takashi Ishikawa
BACKGROUND: Cowden syndrome is characterized by multiple hamartomas in various tissues, including the skin, brain, breast, thyroid, mucous membrane, and gastrointestinal tract, and is reported to increase the risk of malignant disease. CASE PRESENTATION: We describe the case of a 52-year-old woman in whom a tumor was diagnosed in the left cerebellar hemisphere and treated by surgical resection. Phosphatase and tensin homolog (PTEN) mutation in exon 8 insertion was found in the brain tumor tissue and leukocytes...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28734331/optic-nerve-head-drusen-as-a-rare-manifestation-of-cowden-syndrome-multimodal-imaging
#4
Ivo Gama, Leonor Almeida
No abstract text is available yet for this article.
August 2017: Ophthalmology
https://www.readbyqxmd.com/read/28716492/unusual-presenting-manifestation-of-a-rare-polyposis-cowden-syndrome
#5
Luisa Adán Merino, Mercedes Aldeguer Martínez, Federico Álvarez Rodríguez, Marta Barceló López, Rocío Plaza Santos, Fátima Valentín Gómez
No abstract text is available yet for this article.
July 14, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28677221/characterization-of-cryptic-splicing-in-germline-pten-intronic-variants-in-cowden-syndrome
#6
Hannah Jinlian Chen, Todd Romigh, Kaitlin Sesock, Charis Eng
Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism. Evidence-based classification of PTEN variants as either deleterious or benign is urgently needed for accurate molecular diagnosis and gene-informed genetic counseling. We studied 34 different germline PTEN intronic variants from 61 CS patients, characterized their PTEN mRNA processing, and analyzed PTEN expression and downstream readouts of P-AKT and P-ERK1/2. While we found that many mutations near splice junctions result in exon skipping, we also identified the presence of cryptic splicing that resulted in premature termination or a shift in isoform usage...
July 4, 2017: Human Mutation
https://www.readbyqxmd.com/read/28608266/potentially-pathogenic-germline-chek2-c-319-2t-a-among-multiple-early-onset-cancer-families
#7
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
To study the potential contribution of genes other than BRCA1/2, PTEN, and TP53 to the biological and clinical characteristics of multiple early-onset cancers in Norwegian families, including early-onset breast cancer, Cowden-like and Li-Fraumeni-like syndromes (BC, CSL and LFL, respectively). The Hereditary Cancer Biobank from the Norwegian Radium Hospital was used to identify early-onset BC, CSL or LFL for whom no pathogenic variants in BRCA1/2, PTEN, or TP53 had been found in routine diagnostic DNA sequencing...
June 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28567709/renal-cell-cancers-unveiling-the-hereditary-ones-and-saving-lives-a-tailored-diagnostic-approach
#8
REVIEW
Georgios Kallinikas, Helai Habib, Dimitrios Tsimiliotis, Evangelos Koutsokostas, Barna Bokor
The prevalence of RCC in Europe is 2-3% and increasing every year. Hereditary predisposition is found in 5-8% of all RCC cases. Hereditary syndromes associated with RCC include: Von Hippel-Lindau, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube', hereditary leiomyomatosis, succinate dehydrogenase's deficiency, tuberous sclerosis complex and Cowden's syndrome. These syndromes are related to specific genetic mutations. So far the European Association of Urology and American Urological Association have not established guidelines for referral of patients with RCC for germline mutation screening...
May 31, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28558450/-transoral-coblation-assisted-endoscopic-minimally-invasive-surgery-for-superficial-tongue-base-tumours
#9
W Y Li, H Huo, D H Yang, J H Liu, J Wang, X F Jin, Y Y Niu
Objective: To introduce the method of transoral coblation-assisted endoscopic minimally invasive surgery for superficial tongue base tumour. Methods: A total of 15 patients treated with transoral coblation-assisted endoscopic minimally invasive surgery from Mar. 2006 to Aug. 2016 were retrospectively reviewed. There were 9 patients with malignant tumors, 6 patients with benign neoplasms. Adjuvant postoperative radiation therapy was applied in three cases of squamous cell carcinoma, neck was performed in four cases of cancer...
May 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28543709/acral-plexiform-palisaded-encapsulated-neuromas-as-the-initial-cutaneous-manifestation-of-cowden-syndrome
#10
Elizabeth Harris, Adnan Mir
Cowden syndrome (CS) is an autosomal dominant genodermatosis associated with characteristic mucocutaneous findings of facial trichilemmomas, palmoplantar keratoses, sclerotic fibromas, and oral papillomas. Mucocutaneous neuromas have also been reported in association with CS. We describe a patient with CS whose sole cutaneous finding was palisaded encapsulated neuromas (PENs) with a plexiform growth pattern in an acral location. Along with previous reports, this case suggests that acral plexiform PENs may be an early, highly specific finding in CS and highlights the importance of screening these patients for PTEN mutation...
May 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28523199/de-novo-pten-mutation-in-a-young-boy-with-cutaneous-vasculitis
#11
Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, Paul Brogan
Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28513612/insertion-of-alu-elements-at-a-pten-hotspot-in-cowden-syndrome
#12
Louise Crivelli, Virginie Bubien, Natalie Jones, Jennifer Chiron, Françoise Bonnet, Emmanuelle Barouk-Simonet, Patrice Couzigou, Nicolas Sevenet, Frédéric Caux, Michel Longy
Cowden syndrome (CS) is an inherited autosomal dominant disorder associated with germline pathogenic variants of the PTEN tumor suppressor gene. Its phenotypical expression is highly variable and the existence of patients with a CS suggestive phenotype without pathogenic PTEN variant may be related to genetic heterogeneity. In order to explore this hypothesis through the detection of potentially deleterious variants enabling us to identify a new candidate gene, we performed whole-exome sequencing (WES) in a series of 22 CS patients without detectable PTEN pathogenic variant using conventional methods for mutation screening...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28479525/lhermitte-duclos-disease-dysplastic-gangliocytoma-of-the-cerebellum-and-cowden-syndrome-clinical-experience-from-a-single-institution-with-long-term-follow-up
#13
Tao Jiang, Junmei Wang, Jiang Du, Shiqi Luo, Raynald Liu, Jian Xie, Ying Wang, Chunde Li
BACKGROUND: Adult-onset Lhermitte-Duclos disease (LDD) and Cowden syndrome (CS) are considered a single phakomatosis that belongs to PTEN hamartoma tumor syndrome (PHTS) now. There is still controversy regarding the diagnosis and treatment. The authors describe the clinical features of LDD and CS with long-term follow up. METHODS: From January 2001 to January 2017, 18 patients were admitted to the neurosurgery department of Beijing Tiantan Hospital. The authors analyzed the medical records of each patient and followed every case...
August 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28474160/-hereditary-tumor-syndromes-in-neuropathology
#14
REVIEW
C Mawrin
Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at a young age and multiple meningiomas) can be important indications for a previously undiagnosed hereditary tumor disease...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28469042/systemic-treatment-strategies-for-patients-with-hereditary-breast-cancer-syndromes
#15
Amanda Parkes, Banu K Arun, Jennifer K Litton
Hereditary breast cancer syndromes are associated with an increased risk of breast cancer and constitute a unique patient population, making up approximately 5%-10% of breast cancer cases in the United States. By virtue of the germline mutations that define these syndromes, invasive breast cancers in these patients have unique mechanisms that can be rationally targeted for therapeutic opportunities distinct from standard of care treatments in nongermline mutation associated breast cancers. This review intends to describe existing data on several of the most common hereditary breast cancer syndromes, including BRCA-related breast cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, Peutz-Jeghers syndrome, and hereditary diffuse gastric cancer syndrome, specifically focusing on rational therapeutics utilized in these distinct patient subgroups and completed or ongoing clinical trials evaluating their efficacy...
June 2017: Oncologist
https://www.readbyqxmd.com/read/28454282/gastrointestinal-tract-cancers-genetics-heritability-and-germ-line-mutations
#16
Xiao-Peng Lv
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized. These include Cowden syndrome, MUTYH-associated polyposis, hereditary pancreatic cancer, Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis (FAP), attenuated FAP, serrated polyposis syndrome, and hereditary gastric cancer...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28401059/bannayan-riley-ruvalcaba-syndrome-in-a-patient-with-a-pten-mutation-identified-by-chromosomal-microarray-analysis-a-case-report
#17
Sun Hwa Lee, Eell Ryoo, Hann Tchah
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea...
March 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28396890/cowden-syndrome-%C3%A2-oral-presentations-of-a-paraneoplastic-syndrome-%C3%A2-case-report-and-review-of-the-literature
#18
Snober Tariq, Joseph Katz
Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors with unique oral manifestations. We present a case of Cowden syndrome in a patient diagnosed with breast cancer, traumatic fibromas, bronchial asthma, and multiple papillomatous fibromatosis of the oral cavity. Close association between oral papillomatosis associated with Cowden syndrome and PTEN gene mutation may increase the risk for malignant transformation. Therefore, patients of Cowden syndrome should be monitored carefully for all kinds of cancers...
2017: Quintessence International
https://www.readbyqxmd.com/read/28387096/-a-familial-non-medullary-thyroid-carcinoma-fnmtc-a-clinical-and-genetic-update
#19
REVIEW
H Valdes-Socin, L Palmeira, M-C Burlacu, A-F Daly, V Bours, A Beckers
The syndrome of Familial Non Medullary Thyroid Carcinoma (FNMTC) includes two or more patients with an isolated non-medullary thyroid cancer (papillary, follicular, anaplastic) within the same family. To diagnose FNMTC, the clinician must exclude a syndromic presentation such as the syndromes of Cowden, Gardner or Werner, and the Carney Complex. Up to now, a hundred families with FNMTC have been genetically studied, including forms with (Ch19p13.2) or without oxyphilia (Ch2q21), in association with a multinodular goiter (Ch14q32), or with a renal cancer (Ch1q21)...
December 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28372663/anesthetic-management-of-a-patient-with-cowden-syndrome-and-review-of-anesthetic-concerns
#20
Lalwani Parin, Gupta Madhu, Thakur Anil, Banwait Sonali
No abstract text is available yet for this article.
May 2017: Journal of Clinical Anesthesia
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