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.

Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer
Colorectal cancer (CRC) is a common malignant tumor of the digestive system worldwide, associated with hereditary genetic features. CRC with a Mendelian genetic predisposition accounts for approximately 5-10% of total CRC cases, mainly caused by a single germline mutation of a CRC susceptibility gene. The main subtypes of hereditary CRC are hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). With the rapid development of genetic testing methods, especially next-generation sequencing technology, multiple genes have now been confirmed to be pathogenic, including DNA repair or DNA mism...
Source: Journal of Cancer - June 13, 2019 Category: Cancer & Oncology Authors: Qiang Liu, Yue-Qiu Tan Tags: Review Source Type: research

Muir-Torre Syndrome: The Importance of a Detailed Family History
We describe a case that highlights the importance of a detailed family history.Case Rep Ophthalmol 2019;10:180 –185 (Source: Case Reports in Ophthalmology)
Source: Case Reports in Ophthalmology - May 23, 2019 Category: Opthalmology Source Type: research

Pathology of Endometrioid and Clear Cell Carcinoma of the Ovary
This review is an appraisal of the current state of knowledge of 2 enigmatic histotypes of ovarian carcinoma: endometrioid and clear cell carcinoma. Both show an association endometriosis and the hereditary nonpolyposis colorectal cancer (Lynch) syndrome, and both typically present at an early stage. Pathologic and immunohistochemical features that distinguish these tumors from high-grade serous carcinomas, each other, and other potential mimics are discussed, as are staging, grading, and molecular pathogenesis. (Source: Surgical Pathology Clinics)
Source: Surgical Pathology Clinics - May 14, 2019 Category: Pathology Authors: Oluwole Fadare, Vinita Parkash Source Type: research

Prevalence of Lynch syndrome mutations in women with endometrial and colorectal cancer
Introduction: Lynch syndrome or hereditary non-polyposis colon cancer (HNPCC) is inherited disorder in DNA mismatch repair genes which lead to microsatellite instability and increased risk of developing such cancers as colorectal, gastric, endometrial and others in relatively young adults under 50 years of age. Since genes who account for this syndrome have been identified and are transferred to next generations, many countries have launched a screening programme for selected patient groups to carry out prevention strategies. (Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology)
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - February 19, 2019 Category: OBGYN Authors: Elizabete Pumpure, Kristina Gomoneca, Ronalds Macuks Tags: Basic Science 5 – Oncology Source Type: research

Familial Associations of Colon and Rectal Cancers With Other Cancers
CONCLUSIONS: Our results suggested that familial risks for colon cancer were higher than risks for rectal cancer in families of patients with colorectal cancer and colon cancer. The relationships of lung cancer and nervous system cancer with colorectal cancer were site specific. The associations of colon and rectal cancers with lung cancer, myeloma, and cancer of unknown primary appeared not to point out known syndromes and may suggest involvement of a novel predisposition. See Video Abstract at http://links.lww.com/DCR/A791. (Source: Diseases of the Colon and Rectum)
Source: Diseases of the Colon and Rectum - January 18, 2019 Category: Gastroenterology Tags: Original Contributions Source Type: research

A review on role of ATM gene in hereditary transfer of colorectal cancer.
Abstract Colorectal cancer found to be the most commonly occurring cancer worldwide which can be prevented by screening and its curable if diagnosed early. Lynch syndrome/HNPCC being an autosomal genetic disease and propensity in forming colorectal cancer is inherited wherein genomic instabilities and epigenetic changes are being the characteristic forms in hereditary cancers. It is very important to determine the polymorphism in several DNA repairing genes such as ATM, RAD51, XRCC2, XRCC3 and XRCC9 to study the risk exploring both the prognosis and the developing of colorectal cancer. The role of ATM gene...
Source: Acta Bio-Medica : Atenei Parmensis - January 15, 2019 Category: General Medicine Authors: Sriramulu S, Ramachandran M, Subramanian S, Kannan R, Gopinath M, Sollaono J, Bissi L, Banerjee A, Marotta F, Pathak S Tags: Acta Biomed Source Type: research

Enhanced Tumoral MLH1-Expression in MLH1-/PMS2-Deficient Colon Cancer Is Indicative of Sporadic Colon Cancer and Not HNPCC.
This study analyzed semiquantitatively whether the MLH1 staining pattern might be indicative of sporadic or HNPCC-associated colorectal cancer. Using a semiquantitative score ranging from 0 (negative) to 12 (maximum immunopositivity) we analyzed MLH1 expression patterns in 130 MLH1-/PMS2-deficient colorectal cancers. The collective consisted of 70 HNPCC-associated colorectal cancers and 60 sporadic colon cancers. In tumor cells of 70 HNPCC-associated colorectal cancers, 64 cases (91.43%) showed no MLH1 staining, 5 cases weak (7.14%) and 1 case (1.43%) stronger staining intensity. In contrast, in tumor cells of 60 sporadic ...
Source: Pathology Oncology Research - January 6, 2019 Category: Pathology Authors: Tarancón-Diez M, Büttner R, Friedrichs N Tags: Pathol Oncol Res Source Type: research

A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study.
Abstract Lynch syndrome (LS), an autosomal dominantly inherited disease previously known as hereditary non-polyposis colorectal cancer (HNPCC), leads to a high risk of colorectal cancer (CRC) as well as malignancy at certain sites including endometrium, ovary, stomach, and small bowel (Hampel et al., 2008; Lynch et al., 2009). Clinically, LS is considered the most common hereditary CRC-predisposing syndrome, accounting for about 3% of all CRC cases (Popat et al., 2005). LS is associated with mutations of DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, PMS2, and EPCAM (Ligtenberg et al., 2009; Lyn...
Source: J Zhejiang Univ Sci ... - January 1, 2019 Category: Science Authors: Sui QQ, Jiang W, Wu XD, Ling YH, Pan ZZ, Ding PR Tags: J Zhejiang Univ Sci B Source Type: research

BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma.
Authors: Ng J, Lu CT, Lam AK Abstract The aims are to review the relevance of the BRAF mutations in the clinical settings of colorectal carcinoma. All the literature concerning BRAF mutations and colorectal carcinoma published in PubMed from 2010 to 2018 was reviewed. Multiple variants of BRAF mutations exist in colorectal cancer, the most common type being V600E. The mutation is found in 5 to 15% of colorectal carcinomas and is less common in Asian populations. BRAF mutations are linked with older age, female gender, cigarette smoking and are more common in the right (proximal) portion of the large intest...
Source: Histology and Histopathology - December 30, 2018 Category: Cytology Tags: Histol Histopathol Source Type: research

Rethinking the Paradigm in Medical Research and Discovery
My passion for science and medicine began in high school. I grew up near Stanford University in Palo Alto, California. I was a bookish kid, and not much has changed. My first work experience occurred at the age of 16 in a hereditary colorectal cancer laboratory at Stanford under a brilliant preceptor, Hanlee Ji, MD, a Hopkins medical school graduate who was studying Lynch syndrome and hereditary nonpolyposis colorectal cancer with Jim Ford. Here I learned genomics, the method of sequencing, and much more as we spent countless hours discussing different diseases. (Source: Journal of the American College of Radiology : JACR)
Source: Journal of the American College of Radiology : JACR - December 28, 2018 Category: Radiology Authors: Reed Jobs, Elliot K. Fishman, Karen Horton, Pamela T. Johnson Tags: Rethinking the patient experience Source Type: research

Current Approaches to Pancreatic Cancer Screening.
Abstract Pancreatic ductal adenocarcinoma (PDAC) has a 5-year survival rate of only 8% and is estimated to be the second leading cause of cancer-related deaths by 2021. Prior convention held that screening for PDAC would not be beneficial; however, a deeper understanding of the carcinogenesis pathway supports a potential window of opportunity among the target population. Screening for PDAC is not a standard practice among the general population because of its low incidence. However, screening may be beneficial for individuals with familial history, chronic diseases with genetic predispositions, or inherite...
Source: The American Journal of Pathology - December 20, 2018 Category: Pathology Authors: Chhoda A, Lu L, Clerkin BM, Risch H, Farrell JJ Tags: Am J Pathol Source Type: research

Microsatellite instability in colorectal cancer.
Abstract Microsatellites are short tandem repeat DNA sequences of one to tetra base pairs distributed throughout the human genome, both in coding and non-coding regions. Owing to their repeated structure, microsatellites are particularly prone to replication errors that are normally repaired by the Mismatch Repair (MMR) system. MMR is a very highly conserved cellular process, involving many proteins, resulting in the identification, and subsequent repair of mismatched bases, likely to have arisen during DNA replication, genetic recombination or chemical or physical damage. Proteins within the MMR system in...
Source: Acta Bio-Medica : Atenei Parmensis - December 17, 2018 Category: General Medicine Authors: De' Angelis GL, Bottarelli L, Azzoni C, De' Angelis N, Leandro G, Di Mario F, Gaiani F, Negri F Tags: Acta Biomed Source Type: research

Epidemiology and risk factors of pancreatic cancer.
Abstract The most frequent pancreatic cancer is pancreatic adenocarcinoma. It has high and early locally and distant invasiveness; this is the reason why it often shows little sign or symptoms in early stage and poor prognosis after the diagnosis, frequently in advanced stage. Although it is possible to detect this tumor in early stage because of its neoplastic precursor (PanINs). Epidemiological data shows that pancreatic cancer is not very common but obvious it is one of the most neoplastic death-cause in the world. The trend of incidence is quite increasing through years, proportionally to the increase ...
Source: Acta Bio-Medica : Atenei Parmensis - December 17, 2018 Category: General Medicine Authors: Capasso M, Franceschi M, Rodriguez-Castro KI, Crafa P, Cambiè G, Miraglia C, Barchi A, Nouvenne A, Leandro G, Meschi T, De' Angelis GL, Di Mario F Tags: Acta Biomed Source Type: research

Current Approaches to Pancreatic Cancer Screening
Pancreatic ductal adenocarcinoma (PDAC) has a 5-year survival rate of only 8% and is estimated to be the second leading cause of cancer-related deaths by 2021. Prior convention held that screening for PDAC would not be beneficial; however, a deeper understanding of the carcinogenesis pathway supports a potential window of opportunity among the target population. Screening for PDAC is not a standard practice among the general population because of its low incidence. However, screening may be beneficial for individuals with familial history, chronic diseases with genetic predispositions, or inherited cancer syndromes, such a...
Source: American Journal of Pathology - December 14, 2018 Category: Pathology Authors: Ankit Chhoda, Lingeng Lu, Barbara M. Clerkin, Harvey Risch, James J. Farrell Tags: Review Source Type: research

Aspects of the Natural History of Sessile Serrated Adenomas/Polyps: Risk Indicators for Carcinogenesis in the Colorectal Mucosa?
CONCLUSIONS: The age of onset of sessile serrated adenomas/polyps varies, but the pattern is consistent with increasing methylation in the mucosa. Early negative colonoscopies predict a low risk of methylator cancers. See Video Abstract at http://links.lww.com/DCR/A736. (Source: Diseases of the Colon and Rectum)
Source: Diseases of the Colon and Rectum - November 8, 2018 Category: Gastroenterology Tags: Original Contributions: Colorectal Cancer Source Type: research