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hereditary colorectal cancer

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
Laura Valle
The development of genome-wide massively parallel sequencing, i.e. whole-genome and whole-exome sequencing, and copy number approaches had raised high expectations for the identification of novel hereditary colorectal cancer genes. Although relatively successful for genes causing adenomatous polyposis syndromes, both autosomal dominant and recessive, the identification of genes associated with hereditary non-polyposis colorectal cancer has proven extremely challenging, mainly due to the absence of major high penetrance genes and the difficulty in demonstrating the functional impact of the identified variants and their causal association with tumor development...
October 3, 2016: Clinical Gastroenterology and Hepatology
Anna Rohlin, Eva Rambech, Anders Kvist, Therese Törngren, Frida Eiengård, Ulf Lundstam, Theofanis Zagoras, Samuel Gebre-Medhin, Åke Borg, Jan Björk, Mef Nilbert, Margareta Nordling
Hereditary syndromes causing colorectal cancer include both polyposis and non-polyposis syndromes. Overlapping phenotypes between the syndromes have been recognized and this make targeted molecular testing for single genes less favorable, instead there is a gaining interest for multi-gene panel-based approaches detecting both SNVs, indels and CNVs in the same assay. We applied a panel including 19 CRC susceptibility genes to 91 individuals of six phenotypic subgroups. Targeted NGS-based sequencing of the whole gene regions including introns of the 19 genes was used...
September 30, 2016: Familial Cancer
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
Christine W Duarte, Adam W Black, F Lee Lucas, Calvin P H Vary
PURPOSE: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by deficiency in endoglin, an angiogenic protein. We previously showed that HHT, in which systemic endoglin expression is reduced, was associated with better survival outcomes in cancer patients (Duarte et al. in Cancer Epidemiol Biomarkers Prev 23:117-125, 2014). Here, we evaluated whether HHT was associated with reduced cancer incidence. METHODS: A matched case-control analysis using SEER Medicare was conducted to evaluate the effect of HHT on diagnosis with breast, colorectal, lung, or prostate cancer between 2000 and 2007 (n = 633,162)...
September 16, 2016: Journal of Cancer Research and Clinical Oncology
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
Francesco Soria, Shahrokh F Shariat, Seth P Lerner, Hans-Martin Fritsche, Michael Rink, Wassim Kassouf, Philippe E Spiess, Yair Lotan, Dingwei Ye, Mario I Fernández, Eiji Kikuchi, Daher C Chade, Marko Babjuk, Arthur P Grollman, George N Thalmann
PURPOSE: Upper-tract urothelial carcinoma (UTUC) is a relatively uncommon disease with limited available evidence on specific topics. The purpose of this article was to review the previous literature to summarize the current knowledge about UTUC epidemiology, diagnosis, preoperative evaluation and prognostic assessment. METHODS: Using MEDLINE, a non-systematic review was performed including articles between January 2000 and February 2016. English language original articles, reviews and editorials were selected based on their clinical relevance...
September 7, 2016: World Journal of Urology
Matilde Pensabene, Caterina Condello, Chiara Carlomagno, Sabino De Placido, Raffaella Liccardo, Francesca Duraturo
BACKGROUND: Early-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such as ovarian cancer. Subjects with personal and/or family history suggestive for hereditary cancer should be addressed to cancer genetic counseling, aimed to the identification, definition and management of hereditary cancer syndrome, by a multidisciplinary approach. CASE PRESENTATION: A woman with a very early onset epithelial ovarian cancer underwent to cancer genetic counseling and genetic testing...
2016: Hereditary Cancer in Clinical Practice
Kristina Lagerstedt-Robinson, Anna Rohlin, Christos Aravidis, Beatrice Melin, Margareta Nordling, Marie Stenmark-Askmalm, Annika Lindblom, Mef Nilbert
Lynch syndrome caused by constitutional mismatch‑repair defects is one of the most common hereditary cancer syndromes with a high risk for colorectal, endometrial, ovarian and urothelial cancer. Lynch syndrome is caused by mutations in the mismatch repair (MMR) genes i.e., MLH1, MSH2, MSH6 and PMS2. After 20 years of genetic counseling and genetic testing for Lynch syndrome, we have compiled the mutation spectrum in Sweden with the aim to provide a population-based perspective on the contribution from the different MMR genes, the various types of mutations and the influence from founder mutations...
September 1, 2016: Oncology Reports
Matthew D Giglia, Daniel I Chu
While most colorectal cancers (CRCs) originate from nonhereditary spontaneous mutations, one-third of cases are familial or hereditary. Hereditary CRCs, which account for < 5% of all CRCs, have identifiable germline mutations and phenotypes, such as Lynch syndrome and familial adenomatous polyposis (FAP). Familial CRCs, which account for up to 30% of CRCs, have no identifiable germline mutation or specific pattern of inheritance, but higher-than-expected incidence within a family. Since the discovery that certain genotypes can lead to development of CRC, thousands of mutations have now been implicated in CRC...
September 2016: Clinics in Colon and Rectal Surgery
Brandon S Sheffield, Veronica Hirsch-Reinshagen, Kasmintan A Schrader
CONTEXT: -As a pathologist, an awareness of the particular diagnoses that can serve as "sentinels" for an underlying genetic syndrome can be incredibly beneficial to patients and their families. This is a complex and ever-changing field of medicine, where remaining up to date with diagnostic and treatment options is challenging. Simply raising the possibility of an underlying syndrome may not, in itself, be diagnostic; however, this may present an opportunity for genetic assessment, and possibly early intervention or primary prevention of disease in the kindred...
September 2016: Archives of Pathology & Laboratory Medicine
Pavel Vodicka, Barbara Pardini, Veronika Vymetalkova, Alessio Naccarati
Colorectal cancer (CRC) is a complex disease that develops as a consequence of both genetic and environmental risk factors in interplay with epigenetic mechanisms, such as microRNAs (miRNAs). CRC cases are predominantly sporadic in which the disease develops with no apparent hereditary syndrome. The last decade has seen the progress of genome-wide association studies (GWAS) that allowed the discovery of several genetic regions and variants associated with weak effects on sporadic CRC. Collectively these variants may enable a more accurate prediction of an individual's risk to the disease and its prognosis...
2016: Advances in Experimental Medicine and Biology
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
D Maccora, G V Walls, G P Sadler, R Mihai
INTRODUCTION The 2012 British Association of Endocrine and Thyroid Surgeons audit report showed that only 86 of 1359 patients who underwent adrenalectomy had a bilateral operation; thus the experience with this procedure remains limited. METHODS Retrospective review of patients undergoing bilateral adrenalectomy in a tertiary referral centre. RESULTS Between November 2005 and January 2016, bilateral adrenalectomy was performed in 23 patients (6 male, 17 female, age 43 ± 4 years) diagnosed with Cushing's disease (n = 13), hereditary phaeochromocytomas (n = 6), adrenocortical cancer (n = 2), colorectal metastatic disease (n = 1) and adrenocortical adenomas (n = 1)...
August 23, 2016: Annals of the Royal College of Surgeons of England
Dawn Provenzale, Samir Gupta, Dennis J Ahnen, Travis Bray, Jamie A Cannon, Gregory Cooper, Donald S David, Dayna S Early, Deborah Erwin, James M Ford, Francis M Giardiello, William Grady, Amy L Halverson, Stanley R Hamilton, Heather Hampel, Mohammad K Ismail, Jason B Klapman, David W Larson, Audrey J Lazenby, Patrick M Lynch, Robert J Mayer, Reid M Ness, Scott E Regenbogen, Niloy Jewel Samadder, Moshe Shike, Gideon Steinbach, David Weinberg, Mary Dwyer, Susan Darlow
This is a focused update highlighting the most current NCCN Guidelines for diagnosis and management of Lynch syndrome. Lynch syndrome is the most common cause of hereditary colorectal cancer, usually resulting from a germline mutation in 1 of 4 DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2), or deletions in the EPCAM promoter. Patients with Lynch syndrome are at an increased lifetime risk, compared with the general population, for colorectal cancer, endometrial cancer, and other cancers, including of the stomach and ovary...
August 2016: Journal of the National Comprehensive Cancer Network: JNCCN
Ronja Adam, Isabel Spier, Bixiao Zhao, Michael Kloth, Jonathan Marquez, Inga Hinrichsen, Jutta Kirfel, Aylar Tafazzoli, Sukanya Horpaopan, Siegfried Uhlhaas, Dietlinde Stienen, Nicolaus Friedrichs, Janine Altmüller, Andreas Laner, Stefanie Holzapfel, Sophia Peters, Katrin Kayser, Holger Thiele, Elke Holinski-Feder, Giancarlo Marra, Glen Kristiansen, Markus M Nöthen, Reinhard Büttner, Gabriela Möslein, Regina C Betz, Angela Brieger, Richard P Lifton, Stefan Aretz
In ∼30% of families affected by colorectal adenomatous polyposis, no germline mutations have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely. To uncover further genes with high-penetrance causative mutations, we performed exome sequencing of leukocyte DNA from 102 unrelated individuals with unexplained adenomatous polyposis. We identified two unrelated individuals with differing compound-heterozygous loss-of-function (LoF) germline mutations in the mismatch-repair gene MSH3...
August 4, 2016: American Journal of Human Genetics
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
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
Deborah Cragun, Tuya Pal, Susan T Vadaparampil, Julie Baldwin, Heather Hampel, Rita D DeBate
Qualitative comparative analysis (QCA) was developed over 25 years ago to bridge the qualitative and quantitative research gap. Upon searching PubMed and the Journal of Mixed Methods Research, this review identified 30 original research studies that utilized QCA. Perceptions that QCA is complex and provides few relative advantages over other methods may be limiting QCA adoption. Thus, to overcome these perceptions, this article demonstrates how to perform QCA using data from fifteen institutions that implemented universal tumor screening (UTS) programs to identify patients at high risk for hereditary colorectal cancer...
July 2016: Journal of Mixed Methods Research
Stephen M Modell, Karen Greendale, Toby Citrin, Sharon L R Kardia
DESCRIPTION: Among the two leading causes of death in the United States, each responsible for one in every four deaths, heart disease costs Americans $300 billion, while cancer costs Americans $216 billion per year. They also rank among the top three causes of death in Europe and Asia. In 2012 the University of Michigan Center for Public Health and Community Genomics and Genetic Alliance, with the support of the Centers for Disease Control and Prevention Office of Public Health Genomics, hosted a conference in Atlanta, Georgia to consider related action strategies based on public health genomics...
2016: Healthcare (Basel, Switzerland)
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