+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis



Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis



Clinical Gastroenterology and Hepatology 5(3): 374-378



The options for prevention of colorectal cancer in familial adenomatous polyposis are either a colectomy with ileorectal anastomosis (IRA) or a total proctocolectomy with ileal pouch-anal anastomosis (IPAA). Rectal cancer risk is eliminated by IPAA, but complication rate is higher than in IRA. Mutation analysis might predict severity of polyposis and be helpful in the surgical decision. Patients from the Dutch Polyposis Registry with an IRA were subdivided according to the site of adenomatous polyposis coli gene mutation into the attenuated (1), intermediate (2), and severe (3) genotype groups. Cumulative risks of secondary rectal excision and rectal cancer were calculated for each group. A total of 174 patients underwent an IRA: 26 patients from group 1, 121 from group 2, and 27 from group 3. Cumulative risks of rectal cancer 15 years after surgery were 6%, 3%, and 8% in groups 1, 2, and 3, respectively. Cumulative risks of rectal excision 20 years after IRA were 10%, 43%, and 74%, respectively. The risk of rectal excision was significantly higher in group 3 than in the other groups (P < .05). The risk of secondary rectal excision after IRA can be predicted on the basis of the adenomatous polyposis coli mutation site. An IRA appears to be the appropriate treatment in patients with the attenuated genotype. Patients with a severe genotype are good candidates for an IPAA.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 053401616

Download citation: RISBibTeXText

PMID: 17368237

DOI: 10.1016/j.cgh.2006.12.014


Related references

Screening for mutations of the adenomatous polyposis coli gene in 67 Italian familial adenomatous polyposis Further evidence of complex genotype-phenotype correlations. Gastroenterology 114(4 Part 2): A566, 1998

Meta-analysis of genotype-phenotype correlations in familial adenomatous polyposis. Gastroenterology 120(5 Suppl. 1): A 739, 2001

Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. Journal of Clinical Oncology 21(9): 1698-1707, 2003

Genotype-phenotype correlations in familial adenomatous polyposis and its influence on therapeutic decisions. Gastroenterology 118(4 Suppl 2 Part 1): A43, 2000

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. Journal of Medical Genetics 32(9): 728-731, 1995

Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. Cancer Research 59(8): 1857-1860, 1999

APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations. Genetic Testing 9(1): 37-40, 2005

Prospective evaluation of duodenal polyposis progression in familial adenomatous polyposis patients, and genotype-phenotype correlation. Gastroenterology 118(4 Suppl 2 Part 1): AGA A656, 2000

Genotype-phenotype correlation in familial adenomatous polyposis. Gastroenterology 108(4 Suppl. ): A459, 1995

Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene. Critical Reviews in Oncogenesis 6(3-6): 291-303, 1995

Genotype-phenotype correlations in attenuated adenomatous polyposis coli. American Journal of Human Genetics 62(6): 1290-1301, 1998

The complex genotype-phenotype relationship in familial adenomatous polyposis. European Journal of Gastroenterology and Hepatology 16(1): 5-8, 2004

Genotype-phenotype correlations in patients with attenuated adenomatous polyposis coli. Gastroenterology 114(4 Part 2): A682, 1998

Genotype and phenotype of patients with both familial adenomatous polyposis and thyroid carcinoma. Familial Cancer 2(2): 95-99, 2003

Clinical features of familial adenomatous polyposis: Genotype-phenotype correlation and chemoprevention. Stomach & Intestine 32(4): 543-550, 1997