Hereditary Nonpolyposis Colorectal Cancer Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Risk of endometrial cancer in asymptomatic postmenopausal patients with thickened endometrium: data from the FAME-Endo study: an observational register study
ConclusionsOur data compare favorably to a theoretical cohort suggesting a clinically reasonable cut-off of > 11 mm endometrial thickness to discriminate between “normal” and “pathological”. The data regarding “risk for endometrial cancer” can be used for counseling affected women. (Source: Archives of Gynecology and Obstetrics)
Source: Archives of Gynecology and Obstetrics - October 1, 2018 Category: OBGYN Source Type: research

Left-Sided Dominance of Early-Onset Colorectal Cancers: A Rationale for Screening Flexible Sigmoidoscopy in the Young
CONCLUSION: The combination of an increasing incidence of colorectal cancer in those under 50 years of age and the predominance of left-sided cancer suggests that screening by flexible sigmoidoscopy starting at age 40 in average-risk individuals may prevent cancer by finding asymptomatic lesions. See Video Abstract at http://links.lww.com/DCR/A579. (Source: Diseases of the Colon and Rectum)
Source: Diseases of the Colon and Rectum - July 12, 2018 Category: Gastroenterology Tags: Original Contributions: Colorectal Cancer Source Type: research

Screening for susceptibility genes in hereditary non-polyposis colorectal cancer.
Authors: Yu L, Yin B, Qu K, Li J, Jin Q, Liu L, Liu C, Zhu Y, Wang Q, Peng X, Zhou J, Cao P, Cao K Abstract In the present study, hereditary non-polyposis colorectal cancer (HNPCC) susceptibility genes were screened for using whole exome sequencing in 3 HNPCC patients from 1 family and using single nucleotide polymorphism (SNP) genotyping assays in 96 other colorectal cancer and control samples. Peripheral blood was obtained from 3 HNPCC patients from 1 family; the proband and the proband's brother and cousin. High-throughput sequencing was performed using whole exome capture technology. Sequences were ali...
Source: Oncology Letters - June 1, 2018 Category: Cancer & Oncology Tags: Oncol Lett Source Type: research

Hereditary Nonpolyposis Colorectal Cancer and Cancer Syndromes: Recent Basic and Clinical Discoveries.
Authors: Chen E, Xu X, Liu T Abstract Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes. Hereditary nonpolyposis colorectal cancer represents a large proportion of cases, and robustly affected patients are at increased risk for early onset, synchronous, and metachronous colorectal malignancies a...
Source: Journal of Oncology - June 1, 2018 Category: Cancer & Oncology Tags: J Oncol Source Type: research

Mo1717 HOW TO CREATE AN ELECTRONIC DATABASE FOR HNPCC (LYNCH SYNDROME) FROM EXISTING SOFTWARE PROGRAMS: MD ANDERSON CANCER CENTER HNPCC SURVEILLANCE OUTCOMES, A STEP TOWARDS ESTABLISHING QUALITY METRICS FOR HIGH RISK CANCER PATIENTS
A European multicenter group was the first to calculate cumulative cancer incidence rates in patients with HNPCC stratified by mutation and patient demographics. As a step toward U.S. collaboration, we retrospectively evaluated existing clinical software programs to create our HNPCC database. This database was prospectively queried to calculate surveillance outcomes to help establish quality metrics in this field. (Source: Gastrointestinal Endoscopy)
Source: Gastrointestinal Endoscopy - May 30, 2018 Category: Gastroenterology Authors: Selvi Thirumurthi, Mala Pande, Phillip Lum, Sarah A. Bannon, Maureen Mork, Miguel A. Rodriguez-Bigas, Y. Nancy You, Eduardo Vilar Sanchez, Patrick M. Lynch Tags: Monday abstract Source Type: research

Molecular Diagnostics in Colorectal Carcinoma: Advances and Applications for 2018.
Abstract The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse tran...
Source: Clinical Colorectal Cancer - May 21, 2018 Category: Cancer & Oncology Authors: Bhalla A, Zulfiqar M, Bluth MH Tags: Clin Lab Med Source Type: research

Molecular Diagnostics in Colorectal Carcinoma
The molecular pathogenesis and classification of colorectal carcinoma are based on the traditional adenomaecarcinoma sequence, serrated polyp pathway, and microsatellite instability (MSI). The genetic basis for hereditary nonpolyposis colorectal cancer is the detection of mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Genetic testing for Lynch syndrome includes MSI testing, methylator phenotype testing, BRAF mutation testing, and molecular testing for germline mutations in MMR genes. Molecular makers with predictive and prognostic implications include quantitative multigene reverse transcriptase polymerase chain...
Source: Clinics in Laboratory Medicine - May 16, 2018 Category: Laboratory Medicine Authors: Amarpreet Bhalla, Muhammad Zulfiqar, Martin H. Bluth Source Type: research

Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.
Authors: Zhang X, Chen S, Yu J, Zhang Y, Lv M, Zhu M Abstract Germline mutations of DNA mismatch repair gene human MutS homolog 2 (hMSH2) are associated with hereditary nonpolyposis colorectal cancer (HNPCC). A total of one-third of these mutations are missense mutations. Several hMSH2 missense mutations have been identified in patients in East Asia, although their function has not been evaluated. In the present study, the role of ten hMSH2 missense mutations in the pathogenesis of colorectal cancer was examined. The hMSH2/hMSH6 protein interaction system was established using yeast two-hybrid screening. N...
Source: Oncology Letters - May 10, 2018 Category: Cancer & Oncology Tags: Oncol Lett Source Type: research

ACR Appropriateness Criteria ® Colorectal Cancer Screening
This review summarizes the relevant literature regarding colorectal screening with imaging. For individuals at average or moderate risk for colorectal cancer, CT colonography is usually appropriate for colorectal cancer screening. After positive results on a fecal occult blood test or immunohistochemical test, CT colonography is usually appropriate for colorectal cancer detection. For individuals at high risk for colorectal cancer (eg, hereditary nonpolyposis colorectal cancer, ulcerative colitis, or Crohn colitis), optical colonoscopy is preferred because of its ability to obtain biopsies to detect dysplasia. (Source: Jou...
Source: Journal of the American College of Radiology : JACR - May 1, 2018 Category: Radiology Authors: Expert Panel on Gastrointestinal Imaging:, Courtney Moreno, David H. Kim, Twyla B. Bartel, Brooks D. Cash, Kevin J. Chang, Barry W. Feig, Kathryn J. Fowler, Evelyn M. Garcia, Avinash R. Kambadakone, Drew L. Lambert, Angela D. Levy, Daniele Marin, Christin Tags: Appropriate use criteria Source Type: research

Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes
AbstractDissemination of information on a genetically increased risk should according to guidelines primarily be family-mediated. Incomplete and incorrect information spread has, however, been documented and implies missed possibilities for prevention. In Denmark, the national HNPCC register has been granted an exception to send unsolicited letters with information on hereditary colorectal cancer and an invitation to genetic counseling to members of families with familial and hereditary colorectal cancer. To evaluate this approach, we investigated reactions and attitudes to unsolicited letters in 708 members of families wi...
Source: Familial Cancer - April 12, 2018 Category: Cancer & Oncology Source Type: research

MLH1-rheMac hereditary nonpolyposis colorectal cancer syndrome in rhesus macaques [Medical Sciences]
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... (Source: Proceedings of the National Academy of Sciences)
Source: Proceedings of the National Academy of Sciences - March 13, 2018 Category: Science Authors: 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. Bhut Tags: Biological Sciences Source Type: research

Colorectal Cancer Screening and Surveillance in Individuals at Increased Risk.
Abstract 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 t...
Source: American Family Physician - January 15, 2018 Category: Primary Care Authors: Wilkins T, McMechan D, Talukder A, Herline A Tags: Am Fam Physician Source Type: research

Signature Celebration of Gastroenterology, Colorectal Cancer
Gastroenterology has published many seminal articles that have transformed our understanding of colorectal cancer (CRC) as well as being influential in promoting colorectal cancer screening which has saved many people from developing the disease. CRC has a hereditary component most notably highlighted in Lynch syndrome. A key paper reported that the majority of mutations in patients with hereditary nonpolyposis colorectal cancer harbored mutations in the MLH1 or MSH2 mismatch repair proteins. Continuing on the gene mutation theme, another paper. (Source: Gastroenterology)
Source: Gastroenterology - November 23, 2017 Category: Gastroenterology Authors: Andrew T. Chan, Paul Moayyedi Source Type: research

Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.
Abstract 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 m...
Source: Dermatol Online J - November 15, 2017 Category: Dermatology Authors: Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A Tags: Dermatol Online J Source Type: research