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https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#1
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27907203/tp53-polymorphisms-and-colorectal-cancer-risk-in-patients-with-lynch-syndrome-in-taiwan-a-retrospective-cohort-study
#2
Abram Bunya Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Jeng-Fu You, Wen-Chang Wang, Chao A Hsiung, Chih-Ching Yeh
BACKGROUND AND AIM: TP53 encodes p53, which has a crucial role in modulating genes that regulate defense against cancer development. This study investigated whether TP53 polymorphisms are associated with colorectal cancer (CRC) in patients with Lynch syndrome and whether TP53 interacts with lifestyle factors to modify CRC risk. METHODS: We identified 260 MLH1 and MSH2 germline mutation carriers from the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium...
2016: PloS One
https://www.readbyqxmd.com/read/27899188/familial-prostate-cancer
#3
Veda N Giri, Jennifer L Beebe-Dimmer
Prostate cancer is the most commonly diagnosed cancer among men in the United States as well as most Western countries. A significant proportion of men report having a positive family history of prostate cancer in a first-degree relative (father, brother, son), which is important in that family history is one of the only established risk factors for the disease and plays a role in decision-making for prostate cancer screening. Familial aggregation of prostate cancer is considered a surrogate marker of genetic susceptibility to developing the disease, but shared environment cannot be excluded as an explanation for clustering of cases among family members...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899184/genetic-predisposition-to-colorectal-cancer-implications-for-treatment-and-prevention
#4
REVIEW
Elena M Stoffel, Matthew B Yurgelun
Colorectal cancer (CRC) is the third most common cancer diagnosed in men and women and approximately 5% of cases are associated with identifiable germline mutations associated with hereditary cancer syndromes. Lifetime risks for CRC can approach 50%-80% for mutation carriers in the absence of endoscopic and/or surgical intervention, and early identification of at-risk individuals can guide clinical interventions for cancer prevention and treatment. Personal and family history and molecular phenotype of CRC tumors are used in determining which patients should be referred for clinical genetic evaluation...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27896456/dna-copy-number-profiling-in-microsatellite-stable-and-microsatellite-unstable-hereditary-non-polyposis-colorectal-cancers-by-targeted-cnv-array
#5
Weixiang Chen, Jun Ding, Long Jiang, Zebing Liu, Xiaoyan Zhou, Daren Shi
About half of hereditary non-polyposis colorectal cancers (HNPCCs) fulfilling the Amsterdam criteria (AC) do not display evidence of mismatch repair defects, and the difference between microsatellite-stable (MSS) and microsatellite-unstable HNPCC remains poorly understood. The study was to compare overall copy number variation (CNV) and loss of heterozygosity (LOH) of the entire genome in HNPCCs with MSS and microsatellite-instability (MSI) using the Cytoscan HD Array. This was a study carried out in samples from 20 patients with MSS HNPCC and four patients with MSI HNPCC from the Fudan University Shanghai Cancer Center (China)...
November 28, 2016: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/27888866/hereditary-forms-of-colorectal-cancer
#6
Antoni Castells
Colorectal cancer is one of the most frequent neoplasms in western countries; it is the third most common cancer in men after prostate and lung cancer and the second most common in women after breast cancer. Colorectal cancer is usually sporadic but in a small proportion is hereditary. The genetic cause is well established, allowing pre-symptomatic diagnosis in at-risk relatives. The present article reviews the most novel findings presented at the latest meeting of the American Gastroenterological Association on hereditary forms of colorectal cancer, especially Lynch syndrome and MUTYH-associated polyposis, as well as diverse organisational aspects that can favour the correct management of these patients and their relatives...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27888432/candidate-predisposing-germline-copy-number-variants-in-early-onset-colorectal-cancer-patients
#7
A J Brea-Fernandez, C Fernandez-Rozadilla, M Alvarez-Barona, D Azuara, M M Ginesta, J Clofent, L de Castro, D Gonzalez, M Andreu, X Bessa, X Llor, R Xicola, R Jover, A Castells, S Castellvi-Bel, G Capella, A Carracedo, C Ruiz-Ponte
PURPOSE: A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset. METHODS/PATIENTS: We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (<50 years) without identifiable germline mutations in Mendelian genes related to this phenotype...
November 25, 2016: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/27880748/cdc-grand-rounds-family-history-and-genomics-as-tools-for-cancer-prevention-and-control
#8
Juan L Rodriguez, Cheryll C Thomas, Greta M Massetti, Debra Duquette, Lindsay Avner, John Iskander, Muin J Khoury, Lisa C Richardson
Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1)...
November 25, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27872975/identification-of-recurrence-predictive-indicators-in-stage-i-colorectal-cancer
#9
Jun Ho Lee, Jong Lyul Lee, In Ja Park, Seok-Byung Lim, Chang Sik Yu, Jin Cheon Kim
BACKGROUND: Patients with stage I colorectal cancer (CRC) rarely experience recurrences; therefore, few risk factors for recurrence are known. This study was designed to evaluate oncologic outcomes of patients with stage I CRC and to identify risk factors for recurrence after curative surgery. METHODS: A retrospective cohort of 860 patients from a single institution who underwent curative surgery for stage I CRC between July 1995 and June 2010 was enrolled. Patients who were diagnosed with hereditary, synchronous, or metachronous cancer and those who received preoperative chemoradiotherapy were excluded...
November 21, 2016: World Journal of Surgery
https://www.readbyqxmd.com/read/27870147/management-strategies-in-lynch-syndrome-and-familial-adenomatous-polyposis-a-national-healthcare-survey-in-japan
#10
Tomoki Yamano, Michiko Hamanaka, Akihito Babaya, Kei Kimura, Masayoshi Kobayashi, Miki Fukumoto, Kiyoshi Tsukamoto, Masafumi Noda, Nagahide Matsubara, Naohiro Tomita, Kenichi Sugihara
Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and associated with other malignancies. There is some heterogeneity in management strategies in Japan. We performed a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research (JSCCR). One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015...
November 21, 2016: Cancer Science
https://www.readbyqxmd.com/read/27856366/advanced-stage-colorectal-cancer-in-persons-younger-than-50-years-not-associated-with-longer-duration-of-symptoms-or-time-to-diagnosis
#11
Frank W Chen, Vandana Sundaram, Thomas A Chew, Uri Ladabaum
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) is increasing in the United States (US) among adults under the age of 50 years. Studies of young-onset CRC have focused on outcomes and treatment patterns. We examined patient presentation, provider evaluation, and time to diagnosis, which can affect stage and prognosis. METHODS: In a retrospective study, we collected data from patients with a diagnosis of colorectal adenocarcinoma, confirmed by pathologists, seen at the Stanford Cancer Institute from January 1, 2008 through December 31, 2014...
November 14, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27852946/non-alcoholic-fatty-liver-disease-and-colorectal-cancer
#12
REVIEW
I Mikolasevic, L Orlic, D Stimac, I Hrstic, I Jakopcic, S Milic
As a significant cause of cancer death worldwide, colorectal cancer (CRC) is still one of the most common cancers in the world. The most efficient strategies to reduce CRC incidence include identifying risk factors for CRC and performing a preventive colonoscopy in high-risk populations. Some well-established risk factors for CRC development include hereditary syndromes and inflammatory bowel disease. Of note, in recent years, attention has been given to new evidence indicating that more than 75%-95% of CRC occurs in individuals with little or no genetic risk...
November 16, 2016: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/27851738/cascading-muts-and-mutl-sliding-clamps-control-dna-diffusion-to-activate-mismatch-repair
#13
Jiaquan Liu, Jeungphill Hanne, Brooke M Britton, Jared Bennett, Daehyung Kim, Jong-Bong Lee, Richard Fishel
Mismatched nucleotides arise from polymerase misincorporation errors, recombination between heteroallelic parents and chemical or physical DNA damage. Highly conserved MutS (MSH) and MutL (MLH/PMS) homologues initiate mismatch repair and, in higher eukaryotes, act as DNA damage sensors that can trigger apoptosis. Defects in human mismatch repair genes cause Lynch syndrome or hereditary non-polyposis colorectal cancer and 10-40% of related sporadic tumours. However, the collaborative mechanics of MSH and MLH/PMS proteins have not been resolved in any organism...
November 16, 2016: Nature
https://www.readbyqxmd.com/read/27822395/generational-expression-of-muir-torre-syndrome-in-a-canadian-family
#14
Kaitlin Alexandra Vanderbeck, R Gary Sibbald, Nirosha Murugan
Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmed HMSH2 mutation. Recently she presented with two nodular lesions. Histologic examination confirmed these lesions to be sebaceous neoplasms. The patient has a history of endometrial and colorectal adenocarcinoma as well as several nonspecific sebaceous lesions throughout her life...
2016: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/27810226/the-role-of-cyclooxygenase-2-in-colorectal-carcinogenesis
#15
REVIEW
Yongsong Liu, Hong Sun, Min Hu, Yuan Zhang, Shuangling Chen, Sean Tighe, Yingting Zhu
Colorectal cancer is a major worldwide health care problem that accounts for 1 million new cases each year. The risk factors for this disease include hereditary factors, environmental agents, and inflammatory stimuli that affect the gastrointestinal tract. Among these risk factors, cyclooxygenase-2 (COX-2) is one of the major players in the progression of colorectal cancer; however, the detailed mechanism of its role in causing colorectal cancer is still not well understood. In addition, the role of COX-2 signaling through the interaction in the epithelial and stromal compartments on colorectal carcinogenesis has not been fully illustrated...
October 6, 2016: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/27806309/targeted-ultra-deep-sequencing-unveils-a-lack-of-driver-gene-mutations-linking-non-hereditary-gastrointestinal-stromal-tumors-and-highly-prevalent-second-primary-malignancies-random-or-nonrandom-that-is-the-question
#16
Bo-Ru Lai, Yu-Tung Wu, Yung-Chia Kuo, Hung-Chih Hsu, Jen-Shi Chen, Tse-Ching Chen, Ren-Chin Wu, Cheng-Tang Chiu, Chun-Nan Yeh, Ta-Sen Yeh
The association of non-hereditary (sporadic) gastrointestinal stromal tumors (GISTs) and second primary malignancies is known to be nonrandom, although the underlying molecular mechanisms remain unknown. In this study, 136 of 749 (18.1%) patients with sporadic GISTs were found to have additional associated cancers, with gastrointestinal and genitourinary/gynecologic/breast cancers being the most prevalent. Gene mutations in GISTs and their associated colorectal cancers (CRCs) (n=9) were analyzed using a panel of 409 cancer-related genes, while a separate group of 40 sporadic CRCs not associated with GISTs served as controls...
October 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27797228/evaluation-of-mt1xt20-single-quasi-monomorphic-mononucleotide-marker-for-characterizing-microsatellite-instability-in-persian-lynch-syndrome-patients
#17
Najmeh Farahani, Parvaneh Nikpou, Mohammad Hassan Emami, Morteza Hashemzadeh, Mehrdad Zeinalian, Seyed Shervin Shariatpanahi, Rasoul Salehi
BACKGROUND: Colorectal malignancies with high microsatellite instability (MSI-H), either hereditary (Lynch syndrome) or sporadic, demonstrate better prognosis and altered response to 5FU chemotherapy. It is now recommended to perform MSI testing for all new cases of colorectal cancer regardless of being categorized as hereditary or sporadic. For MSI detection, immunohistochemistry or PCR-based protocols using a cohort of various sets of STR markers are recommended. Here we aimed to evaluate a simplified protocol using just a single STR marker, MT1XT20 mononucleotide repeat, for detection of MSI in Lynch syndrome patients...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27796635/clinically-node-negative-pathologically-node-positive-rectal-cancer-patients-who-did-not-receive-neoadjuvant-therapy
#18
Nouf Akeel, Nan Lan, Luca Stocchi, Meagan M Costedio, David W Dietz, Emre Gorgun, Matthew F Kalady, Georgios Karagkounis, Hermann Kessler, Feza H Remzi
PURPOSE: Neoadjuvant chemoradiotherapy is the preferred standard of care for clinical stages II-III rectal cancer. It is uncertain whether clinically node negative (cN-) tumors found to be pathologically stage III could be optimally treated with surgery alone and avoid adjuvant treatments. The aim of our study was to define the outcomes of such patients. METHODS: Patients undergoing radical surgery using total mesorectal excision (TME) techniques for rectal cancer (≤12 cm from the anal verge) with curative intent during 2000-2012 and found to have stage III disease on final pathology were identified from a prospectively maintained database...
October 27, 2016: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/27785421/lynch-syndrome-and-exposure-to-aristolochic-acid-in-upper-tract-urothelial-carcinoma-its-clinical-impact
#19
REVIEW
Pierre Colin, Thomas Seisen, Romain Mathieu, Sharohkh F Shariat, Morgan Rouprêt
The purpose of the current review was to describe the clinical risk for Lynch syndrome (LS) after exposure to aristolochic acid (AA) in cases of upper urinary-tract urothelial carcinoma (UTUC). A systematic review of the scientific literature was performed using the Medline database (National Library of Medicine, PubMed) using the following keywords: epidemiology, risk factor, AA, Balkan nephropathy (BNe), LS, hereditary cancer, hereditary non-polyposis colorectal cancer (HNPCC), mismatch repair genes, urothelial carcinomas, upper urinary tract, renal pelvis, ureter, Amsterdam criteria, genetic counselling, mismatch repair genes, genetic instability, microsatellite, and Bethesda guidelines...
October 2016: Translational Andrology and Urology
https://www.readbyqxmd.com/read/27750112/the-role-of-s100a4-mts1-in-apc-and-smad4-driven-tumour-onset-and-progression
#20
Yaser Atlasi, Rubina Noori, Ivana Marolin, Patrick Franken, Joana Brandao, Katharina Biermann, Paola Collini, Mariam Grigorian, Eugene Lukanidin, Noona Ambartsumian, Riccardo Fodde
INTRODUCTION: S100a4 is a calcium-binding protein belonging to the family of S100-proteins, highly expressed in different stromal cell types. S100A4 has been reported as a prognostic marker in colorectal cancer in association with tumour progression and metastasis. METHODS: In this study, we analysed the in vivo role of S100a4 in intestinal tumour initiation and progression using different transgenic and knockout mouse models. RESULTS: We found that genetic ablation or overexpression of S100a4 in both Apc- and Smad4-mutant mice do not affect tumour initiation in the intestinal tract...
October 14, 2016: European Journal of Cancer
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