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Approximately 35% of patients with colorectal cancer (CRC) have a family history of the disease, due to genetic factors, common exposures, or both. Some families with a history of CRC carry genetic variants that cause CRC with high or moderate penetrance, but these account for only 5%-10% of CRC cases. Most families with a history of CRC and/or adenomas do not carry genetic variants associated with cancer syndromes-this is called common familial CRC. Our understanding of familial predisposition to CRC and cancer syndromes has increased rapidly due to advances in next-generation sequencing technologies. As a result, there has been a shift from genetic testing for specific inherited cancer syndromes, based on clinical criteria alone, to simultaneous testing of multiple genes for cancer-associated variants. We summarize current knowledge of common familial CRC, provide an update on syndromes associated with CRC (including the nonpolyposis and polyposis types), and review current recommendations for CRC screening and surveillance. We also provide an approach to genetic evaluation and testing in clinical practice. Determination of CRC risk based on family cancer history and results of genetic testing can provide a personalized approach to cancer screening and prevention, with optimal use of colonoscopy to effectively decrease CRC incidence and mortality.
This article was published in the following journal.
Family history is an important cancer risk assessment tool, and it is easy to use. The family history is integral in identifying an individual's risk for primary cancer and assists in the assessment o...
Family history (FH) is associated with increased risk of colorectal cancer (CRC). We aimed to examine the potential for CRC risk stratification by known common genetic variants beyond FH in a large po...
Personalization of care through precision medicine and, more specifically, genetic testing is altering the treatment of breast cancer. Genetic testing is used in germline and tumor testing, with each ...
Guidelines recommend individuals with familial colorectal cancer (FCC) to undergo colonoscopy surveillance instead of average-risk screening. However, these recommendations vary widely. To substantiat...
Many women fear the risk of developing breast cancer, and some women have increased fear because of their family history. Thankfully, the study of genetics has brought forth tools to better identify w...
RATIONALE: Determination of genetic markers for colorectal cancer may help doctors to identify patients who are at risk. PURPOSE: Genetic testing study of patients and families with a his...
RATIONALE: The use of a CD-ROM may help patients with colorectal cancer or a family history of colorectal cancer make informed decisions about undergoing microsatellite instability (MSI) t...
Family health history can help identify patients at higher than average risk for disease. There is no standardized system for collecting and updating family health history, using this info...
This study will characterize risk factors associated with breast cancer development in some patients. In particular, it will examine the role of insulin in breast cancer in patients with a...
Background: Research studies have shown that genetic changes and family history may increase a man s risk for prostate cancer. Researchers want to follow the prostate health of men who ha...
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with the formation of colorectal cancer (MCC stands for mutated in colorectal cancer).
Tumor suppressor genes located in the 18q21-qter region of human chromosome 18. The absence of these genes is associated with the formation of colorectal cancer (DCC stands for deleted in colorectal cancer). The products of these genes show significant homology to neural cell adhesion molecules and other related cell surface glycoproteins.
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
A proto-oncogene protein and member of the Wnt family of proteins. It is frequently up-regulated in human GASTRIC CANCER and is a tumor marker (TUMOR MARKERS, BIOLOGICAL) of gastric and COLORECTAL CANCER.
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Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for the organ or type of cell in which they start - for example, cancer that begins in the colon is called colon cancer; cancer th...