5 doctors weighed in:
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

Dr. Colin Kerr
Family Medicine
2 doctors agree
In brief: 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.

In brief: 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. Colin Kerr
Dr. Colin Kerr
Thank
Dr. Richard Roberts
Clinical Genetics
In brief: Yes.
"familial adenomatous polyposis-1 (FAP1) and its variant Gardner syndrome are caused by heterozygous mutation 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.

In brief: Yes.
"familial adenomatous polyposis-1 (FAP1) and its variant Gardner syndrome are caused by heterozygous mutation 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.
Dr. Richard Roberts
Dr. Richard Roberts
Thank
Dr. John Weeks
Family Medicine
In brief: 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!

In brief: 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. John Weeks
Dr. John Weeks
Thank
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