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}), and PARK2 ({602544}) 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 111 free, full-text research articles on human participants. First 3 results:

GREM1 germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer.
 

Author(s): Yael Laitman, Emma Jaeger, Lior Katz, Ian Tomlinson, Eitan Friedman

Journal:

 

A 40 kb ancestral germline duplication upstream of the GREM1 gene was reported in Ashkenazi families with hereditary mixed polyposis syndrome (HMPS).

Last Updated: 21 May 2015

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Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.
 

Author(s): Jun-Xiao Zhang, Lei Fu, Richarda M de Voer, Marc-Manuel Hahn, Peng Jin, Chen-Xi Lv, Eugène Tp Verwiel, Marjolijn Jl Ligtenberg, Nicoline Hoogerbrugge, Roland P Kuiper, Jian-Qiu Sheng, Ad Geurts van Kessel

Journal: World J. Gastroenterol.. 2015 Apr;21(14):4136-49.

 

To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer (CRC) predisposing genes in early-onset or familial CRC cases.

Last Updated: 20 Apr 2015

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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 12 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: 18 Jul 2015

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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: 29 Jul 2014

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Familial colorectal cancer type X: genetic profiles and phenotypic features.
 

Author(s): Mev Dominguez-Valentin, Christina Therkildsen, Sabrina Da Silva, Mef Nilbert

Journal: Mod. Pathol.. 2015 Jan;28(1):30-6.

 

Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, ...

Last Updated: 6 Jan 2015

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Symptoms, Diagnosis, and Treatment

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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: 3 Dec 2014

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Sequencing to Identify Gene Variants in Familial Colorectal Cancer
 

Status: Recruiting

Condition Summary: Colorectal Cancer

 

Last Updated: 20 Jan 2016

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Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
 

Status: Recruiting

Condition Summary: Familial Adenomatous Polyposis; Map Syndrome; Lynch Syndrome; Hnpcc; Colorectal Cancer

 

Last Updated: 1 Dec 2015

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