source: The application of clinical genetics
Leoz M L, Carballal S, Moreira L, Ocaña T, Balaguer F
Amongst other F.A.P.-centric things, this article talks about how your mutation’s specific location (your genotype) can give us clues about the F.A.P. complications you’re prone to (your phenotype). This information is valuable when deciding what treatment and screening protocol is right for you. Not up for sorting through the whole article? No worries, this image from the article, which your genetic counselor can help you decipher, sums up key points. – FAPvoice
From the author:
Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP). FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC), and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP.
Institut d'Investigacions Biomèdiques August Pi i Sunyer
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