Familial Colorectal Cancer

Common Name(s)

Familial Colorectal Cancer

Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by {62:Schweiger et al., 2013}). Genetic Heterogeneity of Colorectal Cancer Mutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP; {175100}) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene ({611731}), whereas HNPCC is caused by mutations in several genes, including MSH2 ({609309}), MLH1 ({120436}), PMS1 ({600258}), PMS2 ({600259}), MSH6 ({600678}), TGFBR2 ({190182}), and MLH3 ({604395}). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis ({608456}), which is caused by mutations in the MUTYH gene ({604933}), and oligodontia-colorectal cancer syndrome ({608615}), which is caused by mutations in the AXIN2 gene ({604025}). The CHEK2 gene ({604373}) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene ({172411}) was identified in a patient with colorectal cancer. Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 ({608812}) is conferred by mutation in the GALNT12 gene ({610290}) on chromosome 9q22; CRCS2 ({611469}) maps to chromosome 8q24; CRCS3 ({612229}) is conferred by variation in the SMAD7 gene ({602932}) on chromosome 18; CRCS4 ({601228}) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene ({603054}); CRCS5 ({612230}) maps to chromosome 10p14; CRCS6 ({612231}) maps to chromosome 8q23; CRCS7 ({612232}) maps to chromosome 11q23; CRCS8 ({612589}) maps to chromosome 14q22; CRCS9 ({612590}) maps to 16q22; CRCS10 ({612591}) is conferred by mutation in the POLD1 gene ({174761}) on chromosome 19q13; CRCS11 ({612592}) maps to chromosome 20p12; and CRCS12 ({615083}) is conferred by mutation in the POLE gene ({174762}) on chromosome 12q24. Somatic mutations in many different genes, including KRAS ({190070}), PIK3CA ({171834}), BRAF ({164757}), CTNNB1 ({116806}), FGFR3 ({134934}), AXIN2 ({604025}), AKT1 ({164730}), MCC ({159350}), MYH11 ({160745}), PARK2 ({602544}), and RNF43 ({612482}), have been identified in colorectal cancer.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial Colorectal Cancer" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial Colorectal Cancer" returned 105 free, full-text research articles on human participants. First 3 results:

Chromosome 19q13 disruption alters expressions of CYP2A7, MIA and MIA-RAB4B lncRNA and contributes to FAP-like phenotype in APC mutation-negative familial colorectal cancer patients.
 

Author(s): Lai Fun Thean, Yu Hui Wong, Michelle Lo, Carol Loi, Min Hoe Chew, Choong Leong Tang, Peh Yean Cheah

Journal:

 

Familial adenomatous polyposis (FAP) is an autosomal-dominantly inherited form of colorectal cancer (CRC) caused by mutation in the adenomatous polyposis coli (APC) gene. Our ability to exhaustively screen for APC mutations identify microsatellite-stable and APC-mutation negative ...

Last Updated: 31 Dec 1969

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Evaluation of a population-based approach to familial colorectal cancer.
 

Author(s): P S Parfrey, E Dicks, O Parfrey, P J McNicholas, H Noseworthy, M O Woods, C Negriin, J Green

Journal: Clin. Genet.. 2017 May;91(5):672-682.

 

As Newfoundland has the highest rate of familial colorectal cancer (CRC) in the world, we started a population-based clinic to provide colonoscopic and Lynch syndrome (LS) screening recommendations to families of CRC patients based on family risk. Of 1091 incident patients 51% provided ...

Last Updated: 31 Dec 1969

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Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
 

Author(s): Sara E Dobbins, Peter Broderick, Daniel Chubb, Ben Kinnersley, Amy L Sherborne, Richard S Houlston

Journal: Fam. Cancer. 2016 10;15(4):593-9.

 

Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of undefined-familial CRC is complex and recent studies have implied ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial Colorectal Cancer" returned 11 free, full-text review articles on human participants. First 3 results:

Familial colorectal cancer screening: When and what to do?
 

Author(s): Giovanna Del Vecchio Blanco, Omero Alessandro Paoluzi, Pierpaolo Sileri, Piero Rossi, Giuseppe Sica, Francesco Pallone

Journal: World J. Gastroenterol.. 2015 Jul;21(26):7944-53.

 

Colorectal cancer (CRC) is the third leading cause of death worldwide and represents a clinical challenge. Family members of patients affected by CRC have an increased risk of CRC development. In these individuals, screening is strongly recommended and should be started earlier than ...

Last Updated: 31 Dec 1969

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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.
 

Author(s): Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder, Virginia Piñol, José Luís Soto, Alfonso Valencia, Ignacio Blanco, Miguel Urioste, Joan Brunet, Conxi Lázaro, Gabriel Capellá, Xose S Puente, Laura Valle

Journal: Genet. Med.. 2016 Apr;18(4):325-32.

 

Germ-line mutations in the exonuclease domains of POLE and POLD1 have been recently associated with polyposis and colorectal cancer (CRC) predisposition. Here, we aimed to gain a better understanding of the phenotypic characteristics of this syndrome to establish specific criteria ...

Last Updated: 31 Dec 1969

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Familial colorectal cancer: a review.
 

Author(s): Franco Armelao, Giovanni de Pretis

Journal: World J. Gastroenterol.. 2014 Jul;20(28):9292-8.

 

Familial colorectal cancer constitutes a heterogeneous group of patients in whom the underlying molecular mechanism is still unknown. Predisposition to a such neoplasms in this setting seems to be due to common low-penetrance genetic components, but the role of genetic testing in ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Familial Colorectal Cancer Registry in Hispanics
 

Status: Recruiting

Condition Summary: Colorectal Cancer

 

Last Updated: 12 Dec 2016

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Uptake to Colorectal Cancer Screening in Familial-risk Population
 

Status: Recruiting

Condition Summary: Colorectal Cancer; Screening Uptake of Colonoscopy and FIT

 

Last Updated: 6 Mar 2017

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