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Published Estimates of Cancer Risk for APC Mutation Carriers
Site |
Population Risk1 |
Risk
in APC Mutation Carriers |
Colon - FAP |
0.2% by age 50
2.0% by age 70
6.0% lifetime |
7% by age 21
87% by age 45
93% by age 50
~100% lifetime2 |
Colon - AFAP |
0.2% by age 50
2.0% by age 70
6.0% lifetime |
80-100% lifetime3
69% by age 8013 |
Duodenal/Periampullary |
< 1.0% by age 70 and lifetime |
4-12%4,5 |
Thyroid |
< 1.0% by age 70 and lifetime* |
~ 2.0%8 |
Pancreatic |
< 1.0% by age 70 and lifetime* |
~ 2.0%8 |
CNS
(usually medulloblastoma) |
< 0.6% |
< 1.0%9 |
Hepatoblastoma |
< 1.0% by age 70 and lifetime |
1.6% in children < 5 years10 |
Gastric |
< 1.0% by age 70 and lifetime* |
0.6%6,7 |
Extra-colonic cancer following a prophylactic colectomy |
----------- |
11% by age 50
52% by age 75
(most occur in the periampullary region)2 |
APC mutation carriers have a higher incidence of extracolonic manifestations
such as desmoid
tumors, osteomas,
dental abnormalities, and congenital hypertrophy of the retinal
pigment epithelium (CHRPE).
While uncommon, asymptomatic patients in their 50s have been reported.
Variability in disease presentation within and between families
with APC mutations is common.
Cancer risks for MAP are currently unknown, although the association with multiple adenomas is thought to increase the risk of colon cancer significantly. Extracolonic manifestations have been observed in MAP, such as duodenal polyps and CHRPE.
- American Cancer Society: Facts and Figures, 2001. http://www.cancer.org *DEVCAN:
Probability of Developing or Dying of Cancer Software, Version 4.1. Feuer
EJ, Wun LM National Cancer Institute, 1999.
- Nugent KP, Spigelman AD, Phillips
RK. Risk of extracolonic cancer in familial
adenomatous polyposis. Br J Surg. 1996;83:1121-1122.
- Burt RW, Jacoby RF. Polyposis
Syndromes. In: Yamada T, Alpers D, Kaplowitz N et al, eds. Textbook
of Gastroenterology. Philadelphia : Lippencott Williams
and Wilkins, 2003;1920.
- Burt R, Colon cancer screening.Gastroenterology 2000;119:837-53.
- Offerhaus GJA, Giardiello FM, Krush AJ, et al. The risk of upper gastrointestinal cancer in familial adenomatous polyposis. Gastroenterology 1992;102:1980-2.
- Sawada T, Muto T. Role
of upper gastrointestinal surveillance in patients with familial adenomatous
polyposis. Gastrointest Endosc Clin N Am. 1997;7:99-111.
- Wallace MH, Phillips RK. Upper
gastrointestinal disease in patients with familial adenomatous polyposis. Br
J Surg. 1998;85:742-750.
- Giardiello FM, Offerhaus GJA,
Krush AJ, et al. Increased risk of thyroid
and pancreatic carcinoma in familial adenomatous polyposis. Gut. 1993;34:1394-1396.
- Hamilton SR, Liu B, Parsons RE,
et al. The molecular basis of Turcot's
syndrome N Engl J Med. 1995;332:839-47.
- Giardiello FM, Brensinger JD,
Petersen GM. AGA Technical Review on Hereditary
Colorectal Cancer and Genetic Testing. Gastroenterology. 2001;121:198-213.
- Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791-799.
- Gismondi V, Meta M, Bonelli L, et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Int J Cancer. 2004;109:680-684.
- Burt RW, Leppert MF, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology. 2004 Aug;127(2):444-51.
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