Attitudes Toward Updated Genetic Testing Among Patients with Unexplained Mismatch Repair Deficiency [PDF]
Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair
Omark, Jessica
core +1 more source
Lack of microsatellite instability in gastrointestinal stromal tumors [PDF]
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair
Abrahão-Machado, Lucas Faria +6 more
core +1 more source
Association between TAS2R38 gene polymorphisms and colorectal cancer risk [PDF]
Molecular sensing in the lingual mucosa and in the gastro-intestinal tract play a role in the detection of ingested harmful drugs and toxins. Therefore, genetic polymorphisms affecting the capability of initiating these responses may be critical for the ...
Barale, Roberto +23 more
core +1 more source
Deficient mismatch repair: Read all about it (Review) [PDF]
Defects in the DNA mismatch repair (MMR) proteins, result in a phenotype called microsatellite instability (MSI), occurring in up to 15% of sporadic colorectal cancers.
Adackapara +131 more
core +1 more source
Microsatellite instability, immunohistochemistry and germline mismatch repair gene mutations for the diagnosis of Muir-Torre syndrome in immunosuppressed patients [PDF]
Although rare sebaceous tumors and keratoacanthomas are clinical criteria for Muir-Torre syndrome (MTS), they can also be found in the context of immunosuppression.
Gorelli, Greta +4 more
core +1 more source
Patterns of K-ras mutation in colorectal carcinomas from Iran and Italy (a Gruppo Oncologico dell'Italia Meridionale study): influence of microsatellite instability status and country of origin. [PDF]
Background: K-ras mutations are a key step in colorectal cancer progression. Such mutations have been widely studied in case series from Western countries but there are few data on the rate and spectrum of mutations in tumors from countries where the ...
AGNESE, Valentina +18 more
core +1 more source
Muir-Torre Syndrome: case report and molecular characterization
CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and ...
Carolina Alejandra Rios +4 more
doaj +1 more source
The updated Swedish family-cancer database used to assess familial risks of prostate cancer during rapidly increasing incidence [PDF]
The Swedish Family-Cancer Database has been used for some 10 years in the study of familial risks at all common sites. In the present paper we describe some of the main features of version VII of this Database, assembled in year 2006.
Kari Hemminki +3 more
core +1 more source
CGPD: Cancer Genetics and Proteomics Database - A Dataset for Computational Analysis and Online Cancer Diagnostic Centre [PDF]
Cancer Genetics and Proteomics Database (CGPD) is a repository for genetics and proteomics data of those Homo sapiens genes which are involved in Cancer. These genes are categorized in the database on the basis of cancer type.
Attia Iram, Muhammad Rizwan Riaz
core
Colon cancer is the cancer of the epithelial cells lining the colon. This type of cancer occurs in many people that are either genetically predisposed or exposed to risk factors.
El-Sibai, Mirvat, Nasrallah, Anita
core +1 more source

