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A 46-year-old member asked:

Hi, anyone familar with fap/gardner syndrome? i know genetic testing would need to be done, i'm in san antonio tx (what do i do next?)

3 doctor answers5 doctors weighed in
Dr. John Weeks
Family Medicine 46 years experience
Colonoscopy: Because of the risk of colon cancer, all members of the family should be screened. The condition usually occurs in approximately 50% of children of an affected parent (autosomal dominant form of genetic transmission.) please have yourself and other family members tested. Good luck!
Dr. Colin Kerr
Family Medicine 45 years experience
Familial polyposis: Genetic testing can be used to help diagnose fap. With genetic testing, a small blood sample is taken from the individual with fap and is sent to a special laboratory that studies the apc gene. About 80% of the time a change (also called an alteration or mutation) in the apc gene that leads to fap is found. Nice summary at: http://www2.Mdanderson.Org/app/pe/index.Cfm?Pagename=opendoc&docid=1032.
Dr. Richard Roberts
Pediatrics 47 years experience
Yes.: "familial adenomatous polyposis-1 (FAP1) and its variant Gardner syndrome are caused by heterozygous mutations in the APC gene (611731) on chromosome 5q22." Your findings may be sufficient to suspect this condition--attenuated FAP plus Gardner syndrome symptoms--desmoids, osteomas, epidermal cysts, and gastric fundic gland polyps--but a high risk of other cancers. I suggest genetics consult ASAP.

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