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hereditary colorectal cancer

Suzanne M Mahon
People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. For some, the polyp burden will be too high to manage endoscopically and will require risk-reducing colectomies...
April 1, 2018: Clinical Journal of Oncology Nursing
Jiekai Yu, Yanqin Huang, Chen Lin, Xiaofen Li, Xuefeng Fang, Chenhan Zhong, Ying Yuan, Shu Zheng
The serum protein markers of colorectal adenoma in patients with a family history of colorectal cancer have been rarely reported. Serum samples from colorectal adenoma patients with or without a family history of colorectal cancer and healthy controls were profiled using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS). The model to distinguish colorectal adenoma patients with a family history of colorectal cancer from atypical hereditary colorectal families (CRA-H) and sporadic colorectal adenoma patients without a family history of colorectal cancer (CRA-S) was established with 85...
2018: Journal of Cancer
Morgan Anyla, Jérémie H Lefevre, Ben Creavin, Chrystelle Colas, Magali Svrcek, Olivier Lascols, Clotilde Debove, Najim Chafai, Emmanuel Tiret, Yann Parc
PURPOSE: Regular follow-up for patients with Lynch syndrome (LS) is vital due to the increased risk of colorectal (50-80%), endometrial (40-60%), and other cancers. However, there is an ongoing debate concerning the best interval between colonoscopies. Currently, no specific endoscopic follow-up has been decided for LS patients who already have an index colorectal cancer (CRC). The aim of this study was to evaluate the risk of metachronous cancers (MC) after primary CRC in a LS population and to determinate if endoscopic surveillance should be more intensive...
March 12, 2018: International Journal of Colorectal Disease
Veronica L Cox, Anas A Saeed Bamashmos, Wai Chin Foo, Shiva Gupta, Sireesha Yedururi, Naveen Garg, Hyunseon Christine Kang
Lynch syndrome is the most common hereditary cancer syndrome, the most common cause of heritable colorectal cancer, and the only known heritable cause of endometrial cancer. Other cancers associated with Lynch syndrome include cancers of the ovary, stomach, urothelial tract, and small bowel, and less frequently, cancers of the brain, biliary tract, pancreas, and prostate. The oncogenic tendency of Lynch syndrome stems from a set of genomic alterations of mismatch repair proteins. Defunct mismatch repair proteins cause unusually high instability of regions of the genome called microsatellites...
March 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Tomasy Sarosiek, Małgorzata Stelmaszuk
Small intestine tumors are rarely diagnosed as they constitute only 0.6% of all malignant tumors, including about 1-3% of malignant neoplasms of the gastrointestinal tract. They also advocate for 0.2% of deaths caused by malignant tumors. Factors that increase the risk of disease include Crohn's disease, familial adenomatous polyposis (FAP), Lynch syndrome (HNPCC - hereditary non-polyposis colorectal cancer), Peuz-Jeghers syndrome, celiac disease and acquired immunodeficiency syndrome (AIDS). Diagnosis of small intestinal tumors is difficult because the symptoms reported by patients are not characteristic...
February 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Heather Hampel
Colorectal cancer can be caused by hereditary cancer syndromes such as Lynch syndrome and the polyposis syndromes. Tumor screening for Lynch syndrome has been recommended by several professional organizations. In addition, it has been shown that patients with microsatellite unstable colorectal cancer can benefit from immunotherapy. Unfortunately, universal tumor screening for Lynch syndrome has not been implemented at all hospitals yet. More recent studies have found that the prevalence of all hereditary cancer syndromes is around 10%, and for those diagnosed under age 50, it is closer to 16%...
April 2018: Surgical Oncology Clinics of North America
David W Brammer, Patrick J Gillespie, Mei Tian, Daniel Young, Muthuswamy Raveendran, Lawrence E Williams, Mihai Gagea, Fernando J Benavides, Carlos J Perez, Russell R Broaddus, Bruce J Bernacky, Kirstin F Barnhart, Mian M Alauddin, Manoop S Bhutani, Richard A Gibbs, Richard L Sidman, Renata Pasqualini, Wadih Arap, Jeffrey Rogers, Christian R Abee, Juri G Gelovani
Over the past two decades, 33 cases of colonic adenocarcinomas have been diagnosed in rhesus macaques ( Macaca mulatta ) at the nonhuman primate colony of the Keeling Center for Comparative Medicine and Research at The University of Texas MD Anderson Cancer Center. The distinctive feature in these cases, based on PET/computed tomography (CT) imaging, was the presence of two or three tumor lesions in different locations, including proximal to the ileocecal juncture, proximal to the hepatic flexure, and/or in the sigmoid colon...
February 28, 2018: Proceedings of the National Academy of Sciences of the United States of America
Monika Morak, Ayseguel Ibisler, Gisela Keller, Ellen Jessen, Andreas Laner, Daniela Gonzales-Fassrainer, Melanie Locher, Trisari Massdorf, Anke M Nissen, Anna Benet-Pagès, Elke Holinski-Feder
BACKGROUND: Germline defects in MLH1 , MSH2 , MSH6 and PMS2 predisposing for Lynch syndrome (LS) are mainly based on sequence changes, whereas a constitutional epimutation of MLH1 (CEM) is exceptionally rare. This abnormal MLH1 promoter methylation is not hereditary when arising de novo, whereas a stably heritable and variant-induced CEM was described for one single allele. We searched for MLH1 promoter variants causing a germline or somatic methylation induction or transcriptional repression...
February 22, 2018: Journal of Medical Genetics
Kycler Witold, Kubiak Anna, Trojanowski Maciej, Janowski Jakub
Colorectal cancer is the second most common type of cancer both in Europe and Poland. During the last 30 years more than a 3-fold increase has been observed in Poland due to environmental and genetic factors. Almost all colorectal malignancies are related to the formation and malignant transformation of colorectal dysplasia and adenoma. Efforts aiming to decrease the number of colorectal cancer deaths are focused on the disease early detection. Genetic diagnosis for hereditary syndromes predisposing to colorectal cancer has been developed and is a part of the routine treatment...
March 2018: Reports of Practical Oncology and Radiotherapy
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
BACKGROUND: The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contribution of genes other than MMR genes to the biological and clinical characteristics of Norwegian families fulfilling Amsterdam (AMS) criteria or revised Bethesda guidelines. METHODS: The Hereditary Cancer Biobank of the Norwegian Radium Hospital was interrogated to identify individuals with a high risk of developing colorectal cancer (CRC) for whom no pathogenic variants in MMR genes had been found in routine diagnostic DNA sequencing...
February 20, 2018: BMC Medical Genetics
Marie Lorans, Eryn Dow, Finlay A Macrae, Ingrid M Winship, Daniel D Buchanan
Colorectal cancer (CRC), one of the most common cancers, is a major public health issue globally, especially in Westernized countries. Up to 35% of CRCs are thought to be due to heritable factors, but currently only 5% to 10% of CRCs are attributable to high-risk mutations in known CRC susceptibility genes, predominantly the mismatch repair genes (Lynch syndrome) and adenomatous polyposis coli gene (APC; familial adenomatous polyposis). In this era of precision medicine, high-risk mutation carriers, when identified, can be offered various risk management options that prevent cancers and improve survival, including risk-reducing medication, screening for early detection, and surgery...
January 11, 2018: Clinical Colorectal Cancer
Stephanie Le, Umer Ansari, Aisha Mumtaz, Kunal Malik, Parth Patel, Amanda Doyle, Amor Khachemoune
Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations in mismatch repair (MMR) genes. A subset of HNPCC, Muir-Torre Syndrome (MTS) also involves MMR gene defects and is generally accepted as a variant of HNPCC. MTS is typicallycharacterized by at least one visceral malignancy and one cutaneous neoplasm of sebaceous differentiation, with or without keratoacanthomas. In either version of the disorder, nonfunctional MMR systems lead tothe loss of genomic integrity, marked commonly by mismatches in repetitive DNA sequences, resulting in microsatellite instabilities...
November 15, 2017: Dermatology Online Journal
Piotr Zelga, Karolina Przybyłowska-Sygut, Marta Zelga, Adam Dziki, Ireneusz Majsterek
BACKGROUND: Colorectal cancer (CRC) remains a major source of cancer-related mortality, accounting for 10% of all cancer-related deaths. DNA mismatch repair mechanism (MMR) responsible for correcting errors generated during DNA replication and its deficiency is associated with both hereditary and sporadic CRC. Single-nucleotide polymorphisms (SNPs) are the most common forms of genetic variation, and it has been shown that the SNPs in MMR genes may modify CRC risk. OBJECTIVES: The aim of the study was to determine the relationship between gene polymorphism Glu39Gly (c...
December 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
David Ullman, Erin Baumgartner, Nicholas Wnukowski, Gabe Koenig, Fady M Mikhail, Peter Pavlidakey, Deniz Peker
Muir-Torre Syndrome (MTS) is a rare hereditary autosomal dominant cancer syndrome and is linked to hereditary non-polyposis colorectal carcinoma (Lynch Syndrome). Individuals develop various skin neoplasms in addition to colorectal, endometrial and upper gastrointestinal malignancies. Therapy-associated myelodysplastic syndrome (T-MDS) is an aggressive hematologic malignancy and is considered a pre-leukemic phase. T-MDS is associated with prior exposure to chemo- and radiotherapy that potentially results in DNA damage...
February 2018: Molecular and Clinical Oncology
Christine M Dejea, Payam Fathi, John M Craig, Annemarie Boleij, Rahwa Taddese, Abby L Geis, Xinqun Wu, Christina E DeStefano Shields, Elizabeth M Hechenbleikner, David L Huso, Robert A Anders, Francis M Giardiello, Elizabeth C Wick, Hao Wang, Shaoguang Wu, Drew M Pardoll, Franck Housseau, Cynthia L Sears
Individuals with sporadic colorectal cancer (CRC) frequently harbor abnormalities in the composition of the gut microbiome; however, the microbiota associated with precancerous lesions in hereditary CRC remains largely unknown. We studied colonic mucosa of patients with familial adenomatous polyposis (FAP), who develop benign precursor lesions (polyps) early in life. We identified patchy bacterial biofilms composed predominately of Escherichia coli and Bacteroides fragilis Genes for colibactin ( clbB ) and Bacteroides fragilis toxin ( bft ), encoding secreted oncotoxins, were highly enriched in FAP patients' colonic mucosa compared to healthy individuals...
February 2, 2018: Science
Clothaire P E Spoto, Irene Gullo, Fatima Carneiro, Elizabeth A Montgomery, Lodewijk A A Brosens
Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome)...
January 31, 2018: Seminars in Diagnostic Pathology
Annamaria Guglielmo, Nicoletta Staropoli, Monica Giancotti, Marianna Mauro
Background: Due to its epidemiological relevance, several studies have been performed to assess the cost-effectiveness of diagnostic tests and treatments in colorectal cancer (CRC) patients. Objective: We reviewed economic evaluations on diagnosis of inherited CRC-syndromes and genetic tests for the detection of mutations associated with response to therapeutics. Methods: A systematic literature review was performed by searching the main literature databases for relevant papers on the field, published in the last 5 years...
2018: Cost Effectiveness and Resource Allocation: C/E
(no author information available yet)
Hereditary colorectal cancer can be divded into two categories based on the presence or absence of polyps. The first category is characterized by the development of polyposis, which includes familial adenomatous polyposis (FAP); The second category is nonpolyposis colorectal cancer, which is represented by Lynch syndrome. "Consensus on clinical diagnosis, treatment and pedigree management of hereditary colorectal cancer in China" developed by the Genetics Group of the Committee of Colorectal Cancer, Chinese Anti-cancer Association, is composed of three sections, including hereditary nonpolyposis syndrome, polyposis syndrome as well as genetic evaluation of hereditary colorectal cancer...
January 23, 2018: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
Thad Wilkins, Danielle McMechan, Asif Talukder, Alan Herline
Individuals at increased risk of developing colorectal cancer include those with a personal or family history of advanced adenomas or colorectal cancer, a personal history of inflammatory bowel disease, or genetic polyposis syndromes. In general, these persons should undergo more frequent or earlier testing than individuals at average risk. Individuals who have a first-degree relative with colorectal cancer or advanced adenoma diagnosed before 60 years of age or two first-degree relatives diagnosed at any age should be advised to start screening colonoscopy at 40 years of age or 10 years younger than the earliest diagnosis in their family, whichever comes first...
January 15, 2018: American Family Physician
Mas Khan, D Jayne, R Saunders
Introduction Total colectomy and ileorectal anastomosis can result in significant defecatory frequency and poor bowel function. The aim of this study was to assess whether a laparoscopic approach is associated with any improvement in this regard. Methods A single institution retrospective review was undertaken of patients undergoing elective total colectomy and ileorectal anastomosis between 2000 and 2011. Those undergoing emergency surgery and paediatric surgery were excluded. The primary outcome measure was satisfactory defecatory function after surgery...
January 24, 2018: Annals of the Royal College of Surgeons of England
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