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 {60: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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 83 free, full-text research articles on human participants. First 3 results:

Eleven candidate susceptibility genes for common familial colorectal cancer.
 

Author(s): Alexandra E Gylfe, Riku Katainen, Johanna Kondelin, Tomas Tanskanen, Tatiana Cajuso, Ulrika Hänninen, Jussi Taipale, Minna Taipale, Laura Renkonen-Sinisalo, Heikki Järvinen, Jukka-Pekka Mecklin, Outi Kilpivaara, Esa Pitkänen, Pia Vahteristo, Sari Tuupanen, Auli Karhu, Lauri A Aaltonen

Journal: PLoS Genet.. 2013 ;9(10):e1003876.

 

Hereditary factors are presumed to play a role in one third of colorectal cancer (CRC) cases. However, in the majority of familial CRC cases the genetic basis of predisposition remains unexplained. This is particularly true for families with few affected individuals. To identify susceptibility ...

Last Updated: 22 Oct 2013

Go To URL
Distinct gene expression signatures in lynch syndrome and familial colorectal cancer type x.
 

Author(s): Mev Dominguez-Valentin, Christina Therkildsen, Srinivas Veerla, Mats Jönsson, Inge Bernstein, Ake Borg, Mef Nilbert

Journal:

 

Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.

Last Updated: 16 Aug 2013

Go To URL
Screening practices of unaffected people at familial risk of colorectal cancer.
 

Author(s): Driss Ait Ouakrim, Alex Boussioutas, Trevor Lockett, Ingrid Winship, Graham G Giles, Louisa B Flander, Louise Keogh, John L Hopper, Mark A Jenkins

Journal: Cancer Prev Res (Phila). 2012 Feb;5(2):240-7.

 

Our objective was to determine screening practices of unaffected people in the general population at moderately increased and potentially high risk of colorectal cancer (CRC) because of their family history of the disease. A total of 1,627 participants in the Australasian Colorectal ...

Last Updated: 6 Feb 2012

Go To URL

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 7 free, full-text review articles on human participants. First 3 results:

Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.
 

Author(s): Chee-Seng Ku, David N Cooper, Mengchu Wu, Dimitrios H Roukos, Yudi Pawitan, Richie Soong, Barry Iacopetta

Journal: Mod. Pathol.. 2012 Aug;25(8):1055-68.

 

Recent advances in genotyping and sequencing technologies have provided powerful tools with which to explore the genetic basis of both Mendelian (monogenic) and sporadic (polygenic) diseases. Several hundred genome-wide association studies have so far been performed to explore the ...

Last Updated: 2 Aug 2012

Go To URL
A review of the genetic background and tumour profiling in familial colorectal cancer.
 

Author(s): Tom van Wezel, Anneke Middeldorp, Juul T Wijnen, Hans Morreau

Journal: Mutagenesis. 2012 Mar;27(2):239-45.

 

Inherited predisposition plays a role in 10-30% of colorectal cancer (CRC) cases. Of the large families with a clearly positive family history of CRC, ∼40% is not affected by known CRC syndromes. The existence of families with unexplained forms of inherited CRC--familial CRC--suggests ...

Last Updated: 1 Feb 2012

Go To URL
Lessons from Lynch syndrome: a tumor biology-based approach to familial colorectal cancer.
 

Author(s): Daniel D Buchanan, Aedan Roberts, Michael D Walsh, Susan Parry, Joanne P Young

Journal: Future Oncol. 2010 Apr;6(4):539-49.

 

Colorectal cancer (CRC) develops within precursor lesions in the single-celled epithelial lining of the gut. The two most common epithelial lesions are the adenoma and the serrated polyp. CRC is also one of the most familial of the common cancers, and just as there are syndromes associated ...

Last Updated: 8 Apr 2010

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Familial Colorectal Cancer Registry in Hispanics
 

Status: Recruiting

Condition Summary: Colorectal Cancer

 

Last Updated: 5 Aug 2011

Go to URL
Sequencing to Identify Gene Variants in Familial Colorectal Cancer
 

Status: Recruiting

Condition Summary: Colorectal Cancer

 

Last Updated: 20 Jan 2014

Go to URL
Screening for Familial Colorectal Cancer (CRC) Patients
 

Status: Recruiting

Condition Summary: Colorectal Cancer

 

Last Updated: 5 May 2014

Go to URL