A 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?)

5 doctors weighed in across 3 answers

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!

Answered 4/11/2012

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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.

Answered 8/31/2012

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Dr. Richard Roberts answered

Specializes in Pediatrics

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.

Answered 6/27/2015

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