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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
#1
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/27822395/generational-expression-of-muir-torre-syndrome-in-a-canadian-family
#2
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/27785421/lynch-syndrome-and-exposure-to-aristolochic-acid-in-upper-tract-urothelial-carcinoma-its-clinical-impact
#3
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/27642480/-lynch-syndrome-case-report-and-review-of-the-literature
#4
Laila Bouguenouch, Imane Samri, Khadija Belhassan, Hanane Sayel, Meriame Abbassi, Sanae Bennis, Dafr Allah Benajah, Adil Ibrahimi, Afaf Amarti, Karim Ouldim
Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancers. It increases cancer susceptibility, the risk of colorectal cancer in first-degree, endometrial cancer in women, and to a lesser extent, other cancers (ovarian, small bowel, stomach, urinary tract and hepatobiliary). Thus, the cumulative risk of developing colorectal cancer or endometrial cancer at the age of 80 years rises to 20 and 40% respectively. These cancers are characterized by a positive family history, their occurrence at an early age, and by the development of metachronous cancers in the same individual...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27630275/update-on-hereditary-colorectal-cancer
#5
REVIEW
Felipe Carneiro DA Silva, Patrik Wernhoff, Constantino Dominguez-Barrera, Mev Dominguez-Valentin
In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have significant phenotypic overlapping that makes clinical diagnosis a challenging task. Distinguishing among the HNPCC disorders is clinically important, as the approach to surveillance for patients and their at-risk family members differs according to risks for colonic and extracolonic cancer associated with each syndrome...
September 2016: Anticancer Research
https://www.readbyqxmd.com/read/27555886/cytotoxic-and-targeted-therapy-for-hereditary-cancers
#6
REVIEW
Aglaya G Iyevleva, Evgeny N Imyanitov
There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27535758/prevalence-of-lynch-syndrome-in-unselected-patients-with-endometrial-or-ovarian-cancer
#7
Karin Kast, Catharina Dobberschütz, Carolin Eva Sadowski, Steffen Pistorius, Pauline Wimberger
INTRODUCTION: Lynch syndrome is known by healthcare providers mainly for patients with colorectal cancer. Awareness of other associated tumors, such as endometrial or ovarian cancer, is low. This study aimed to analyze the prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. In addition, the willingness of patients and family members to undergo germline mutation testing was investigated. METHODS: The medical records of all patients diagnosed with endometrial or ovarian cancer at the Department of Gynecology and Obsterics, University Hospital Dresden, between 1998 and 2012, were screened for a family history of HNPCC-associated cancer...
August 18, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27468915/first-description-of-mutational-analysis-of-mlh1-msh2-and-msh6-in-algerian-families-with-suspected-lynch-syndrome
#8
H Ziada-Bouchaar, K Sifi, T Filali, T Hammada, D Satta, N Abadi
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disorder characterized by the early onset of colorectal cancer (CRC) linked to germline defects in Mismatch Repair (MMR) genes. We present here, the first molecular study of the correlation between CRC and mutations occurring in these genes performed in twenty-one unrelated Algerian families. The presence of germline mutations in MMR genes, MLH1, MSH2 and MSH6 genes was tested by sequencing all exons plus adjacent intronic sequences and Multiplex ligand-dependent probe amplification (MLPA) for testing large genomic rearrangements...
July 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27459116/hmsh2-and-hmsh6-gene-expression-profiles-in-colorectal-adenocarcinoma-in-patients-up-to-50-years-of-age
#9
Demétrius Germini, Flávia Gehrke, Daniel Lira, Beatriz Alves, Lígia Azzalis, Matheus Perez, Fernando Fonseca, Jaques Waisberg
Lynch syndrome, previously called hereditary non-polyposis colorectal cancer (HNPCC), is a major mortality threat. It is an autosomal dominant disease which is caused by a germline mutation in the DNA mismatch repair (MMR), especially in patients aged up to 50 years. Such mutation more frequently occurs in the hMSH2 gene (38-40%) and less frequently in the hMSH6 gene (14-16%). These mutations, when associated with the patient's lifestyle, may reveal a considerable variability in the disease manifestations, such as the degrees of penetrance and clinical aggressiveness...
July 23, 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27456091/a-cohort-analysis-of-men-with-a-family-history-of-brca1-2-and-lynch-mutations-for-prostate-cancer
#10
Lynne Kerr, Matthew J Rewhorn, Mark Longmuir, Sioban Fraser, Shaun Walsh, Nicola Andrew, Hing Y Leung
BACKGROUND: Prostate cancer (PC) is a major health concern for men worldwide, with an estimated lifetime risk of ~14 %. A recent comprehensive analysis of mutational processes revealed ageing and mismatch repair as the only altered processes in PC. We wish to test if a cohort of men with inherited risk of mismatch repair defect through BRCA1/2 or Lynch Syndrome mutations represents a target population for prostate cancer testing. METHODS: Fifty-eight men (aged 40-69 years) from families with a history of BRCA1/2 or HNPCC/Lynch mutations were invited to take part...
2016: BMC Cancer
https://www.readbyqxmd.com/read/27296402/-lynch-syndrome-%C3%A2-the-pathologist-s-diagnosis
#11
M Dušek, L Hadravský, K Černá, J Stehlík, M Švajdler, B Kokošková, M Dubová, M Michal, O Daum
Lynch syndrome (formerly known as hereditary non-polyposis colorectal cancer) is the most com-mon hereditary colorectal cancer syndrome. The syndrome is caused by a germline mutation of one of the mismatch repair (MMR) genes responsible for DNA replication error repair. Impaired function of the proteins encoded by these genes leads to microsatellite instability (MSI), which is associated with increased incidence of neoplasms: mainly colorectal cancer. According to recent estimates, up to 5% of all colorectal cancers are associated with Lynch syndrome...
2016: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/27294005/the-mrna-level-of-mlh1-in-peripheral-blood-is-a-biomarker-for-the-diagnosis-of-hereditary-nonpolyposis-colorectal-cancer
#12
Hong Yu, Hui Li, Yongan Cui, Wei Xiao, Guihong Dai, Junxing Huang, Chaofu Wang
Hereditary nonpolyposis colorectal cancer (HNPCC) is caused by functional defects in mismatch repair (MMR) genes, including mutL homolog 1 (MLH1) and mutS homolog 2 (MSH2). This study aimed to assess whether the mRNA expression of MLH1 in peripheral blood could be used as a biomarkers for the diagnosis of HNPCC. The mRNA level of MLH1 was determined in 19 HNPCC families (46 members) using real-time quantitative polymerase chain reaction (qPCR). The mRNA levels of MLH1 in HNPCC were significantly lower than controls (P < 0...
2016: American Journal of Cancer Research
https://www.readbyqxmd.com/read/27284484/a-potential-association-between-exposure-to-hepatitis-b-virus-and-small-bowel-adenocarcinoma
#13
Ersilia M DeFilippis, Mamta Mehta, Emmy Ludwig
Chronic infection with hepatitis B virus (HBV) has never been described as a risk factor for small bowel adenocarcinoma, although infection is a known risk factor for hepatocellular carcinoma. From May 2009 to December 2014, we implemented an institution-wide screening program for hepatitis B viral serologies prior to starting chemotherapy. Evidence of exposure [hepatitis B core antibody (anti-HBc) positivity in the absence of hepatitis B surface antigen (HBsAg) positivity] was highest in patients with hepatocellular carcinoma (21...
June 2016: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/27276067/dremecels-a-curated-database-for-base-excision-and-mismatch-repair-mechanisms-associated-human-malignancies
#14
Ankita Shukla, Ahmed Moussa, Tiratha Raj Singh
DNA repair mechanisms act as a warrior combating various damaging processes that ensue critical malignancies. DREMECELS was designed considering the malignancies with frequent alterations in DNA repair pathways, that is, colorectal and endometrial cancers, associated with Lynch syndrome (also known as HNPCC). Since lynch syndrome carries high risk (~40-60%) for both cancers, therefore we decided to cover all three diseases in this portal. Although a large population is presently affected by these malignancies, many resources are available for various cancer types but no database archives information on the genes specifically for only these cancers and disorders...
2016: PloS One
https://www.readbyqxmd.com/read/27234654/association-of-a-let-7-mirna-binding-region-of-tgfbr1-with-hereditary-mismatch-repair-proficient-colorectal-cancer-mss-hnpcc
#15
Rosa M Xicola, Sneha Bontu, Brian J Doyle, Jamie Rawson, Pilar Garre, Esther Lee, Miguel de la Hoya, Xavier Bessa, Joan Clofent, Luis Bujanda, Francesc Balaguer, Sergi Castellví-Bel, Cristina Alenda, Rodrigo Jover, Clara Ruiz-Ponte, Sapna Syngal, Montserrat Andreu, Angel Carracedo, Antoni Castells, Polly A Newcomb, Noralane Lindor, John D Potter, John A Baron, Nathan A Ellis, Trinidad Caldes, Xavier LLor
The purpose of this study was to identify novel colorectal cancer (CRC)-causing alleles in unexplained familial CRC cases. In order to do so, coding regions in five candidate genes (MGMT, AXIN2, CTNNB1, TGFBR1 and TGFBR2) were sequenced in 11 unrelated microsatellite-stable hereditary non-polyposis CRC (MSS HNPCC) cases. Selected genetic variants were genotyped in a discovery set of 27 MSS HNPCC cases and 85 controls. One genetic variant, rs67687202, in TGFBR1 emerged as significant (P = 0.002), and it was genotyped in a replication set of 87 additional MSS HNPCC-like cases and 338 controls where it was also significantly associated with MSS HNPCC cases (P = 0...
August 2016: Carcinogenesis
https://www.readbyqxmd.com/read/27131936/-microsatellite-instability-in-patients-with-diagnostic-of-colorectal-cancer
#16
César Ortiz, Kenny Dongo-Pflucker, Luis Martín-Cruz, Claudia Barletta Carrillo, Pamela Mora-Alferez, Abelardo Arias
OBJECTIVE: To determine the presence of microsatellite instability in patients with colorectal cancer using the molecular panel Bethesda and discuss its significance in patients with suspected hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch Syndrome. MATERIALS AND METHODS: We worked with samples of peripheral blood and tumor tissue of 28 patients diagnosed with colorectal cancer referred to the Laboratory of Molecular Biology of the Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima, with suspected of Lynch syndrome...
January 2016: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/27087812/thyroid-renal-and-breast-carcinomas-chondrosarcoma-colon-adenomas-and-ganglioneuroma-a-new-cancer-syndrome-fap-or-just-coincidence
#17
Ihab Shafek Atta, Fahd Nasser AlQahtani
We are presenting a case associated with papillary thyroid carcinoma, renal cell carcinoma, invasive mammary carcinoma, chondrosarcoma, benign ganglioneuroma, and numerous colon adenomas. The patient had a family history of colon cancer, kidney and bladder cancers, lung cancer, thyroid cancer, leukemia, and throat and mouth cancers. She was diagnosed with colonic villous adenoma at the age of 41 followed by thyroid, renal, and breast cancers and chondrosarcoma at the ages of 48, 64, 71, and 74, respectively...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27069191/causes-of-cancer-death-among-first-degree-relatives-in-japanese-families-with-lynch-syndrome
#18
Kohji Tanakaya, Tatsuro Yamaguchi, Hideki Ishikawa, Takao Hinoi, Yoichi Furukawa, Keiji Hirata, Yoshihisa Saida, Mototsugu Shimokawa, Masami Arai, Nagahide Matsubara, Naohiro Tomita, Kazuo Tamura, Kokichi Sugano, Chikashi Ishioka, Teruhiko Yoshida, Hideyuki Ishida, Toshiaki Watanabe, Kenichi Sugihara
AIM: To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). METHODS: The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. RESULTS: Among 98 cancer deaths of first-degree relatives of unknown mutation status, 53%, 19%, 13% (among females), 7% (among females) and 5% were due to colorectal, gastric, uterine, ovarian, and hepatobiliary cancer, respectively...
April 2016: Anticancer Research
https://www.readbyqxmd.com/read/27013479/frequent-mismatch-repair-defects-link-prostate-cancer-to-lynch-syndrome
#19
Mev Dominguez-Valentin, Patrick Joost, Christina Therkildsen, Mats Jonsson, Eva Rambech, Mef Nilbert
BACKGROUND: A possible role for prostate cancer in Lynch syndrome has been debated based on observations of mismatch-repair defective tumors and reports of an increased risk of prostate cancer in mutation carriers. Potential inclusion of prostate cancer in the Lynch syndrome tumor spectrum is relevant for family classification, risk estimates and surveillance recommendations in mutation carriers. METHODS: We used the population-based Danish HNPCC-register to identify all prostate cancers that developed in mutation carriers and in their first-degree relatives from 288 Lynch syndrome families...
March 24, 2016: BMC Urology
https://www.readbyqxmd.com/read/27008468/upper-tract-urothelial-carcinoma-epidemiology-high-risk-populations-and-detection
#20
Grant P Redrow, Surena F Matin
Upper tract urothelial carcinoma (UTUC) is a rare but highly morbid genitourinary malignancy. In 2014 approximately 15,000 new cases were diagnosed in the United States. It accounts for approximately 5-10% of all urothelial cell carcinomas, and 10% of renal tumors. Recent research has increased understanding of the epidemiology of this disease, including several high-risk populations. Environmental exposure to tobacco as well as aristolochic acid, and other carcinogens significantly increase the development of UTUC...
August 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
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