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

Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer.
 

Author(s): Paulo Roberto Stevanato Filho, Samuel Aguiar Júnior, Maria Dirlei Begnami, Hellen Kuasne, Ranyell Matheus Spencer, Wilson Toshihiko Nakagawa, Tiago Santoro Bezerra, Bruna Catin Kupper, Renata Maymi Takahashi, Mateus Barros Filho, Silvia Regina Rogatto, Ademar Lopes

Journal:

 

Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas ...

Last Updated: 31 Dec 1969

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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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Familial Risk and Heritability of Colorectal Cancer in the Nordic Twin Study of Cancer.
 

Author(s): Rebecca E Graff, Sören Möller, Michael N Passarelli, John S Witte, Axel Skytthe, Kaare Christensen, Qihua Tan, Hans-Olov Adami, Kamila Czene, Jennifer R Harris, Eero Pukkala, Jaakko Kaprio, Edward L Giovannucci, Lorelei A Mucci, Jacob B Hjelmborg

Journal: Clin. Gastroenterol. Hepatol.. 2017 Aug;15(8):1256-1264.

 

We analyzed data from twins to determine how much the familial risk of colorectal cancer can be attributed to genetic factors vs environment. We also examined whether heritability is distinct for colon vs rectal cancer, given evidence of distinct etiologies.

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

Familial adenomatous polyposis syndrome with colorectal cancer in two Nigerians: a report of two cases and review of literature.
 

Author(s): Matthew Olumuyiwa Bojuwoye, Abdulfatai Bamidele Olokoba, Olumuyiwa Ayotunde Ogunlaja, Sulaiman Olayide Agodirin, Olatunde Kazeem Ibrahim, Kenechukwu Chukwuemeka Okonkwo, Aminu Mansa Aliyu

Journal:

 

Familial adenomatous polyposis syndrome is a rare condition characterized by the presence of numerous adenomatous polyps in the gastrointestinal tract and associated with risk for colorectal cancer. The disease is scarcely reported in Nigeria and this is the index report in Ilorin. ...

Last Updated: 31 Dec 1969

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Do alcoholic beverages, obesity and other nutritional factors modify the risk of familial colorectal cancer? A systematic review.
 

Author(s): Anthony Fardet, Nathalie Druesne-Pecollo, Mathilde Touvier, Paule Latino-Martel

Journal: Crit. Rev. Oncol. Hematol.. 2017 Nov;119():94-112.

 

Individuals with family history of colorectal cancer are at higher risk of colorectal cancer than the general population. Until now, guidelines for familial colorectal cancer risk have only pointed at early diagnosis efforts via screening tests and surveillance, and payed scarce or ...

Last Updated: 31 Dec 1969

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Recent Discoveries in the Genetics of Familial Colorectal Cancer and Polyposis.
 

Author(s): Laura Valle

Journal: Clin. Gastroenterol. Hepatol.. 2017 Jun;15(6):809-819.

 

The development of genome-wide massively parallel sequencing, ie, whole-genome and whole-exome sequencing, and copy number approaches has raised high expectations for the identification of novel hereditary colorectal cancer genes. Although relatively successful for genes causing adenomatous ...

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; Gastric Cancer; Colorectal Neoplasms; Colorectal Adenoma; Lynch Syndrome

 

Last Updated: 14 Oct 2018

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A Program for Improved Family Screening for Colorectal Cancer
 

Status: Not yet recruiting

Condition Summary: Colorectal Cancer

 

Last Updated: 2 Aug 2018

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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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