Talk:Familial adenomatous polyposis

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note

Genetics Section Needs Revision This part of the article states that FAP is autosomal dominant. According to Alberts (Molecular biology of the Cell) 5th edition page 1250 this is not the case. Both alleles (copies of the gene) need to be mutated before FAP onset. If you have the time please check/fix this...thanks

Purely inherited?

So, is this a purely inherited condition (as name would suggest), or is it possible for someone wothout a family history to get it. Maybe a section on inheritance or etiology could be added (I'd do it myself but I dont know the answer)

It is not purely hereditary - de novo mutations can occur with a negative familiy history. JFW | T@lk 06:25, 16 Mar 2005 (UTC)
The term "familial" is fully correct, by long-standing convention, but does not (by the same convention, as well as the logic of the genetics at play, as follows) imply a requirement for a familial history. As JFW stated, within an individual it is not always inherited from the preceding generation, because de novo mutation can occur. Quantitatively this is important in this condition, as it is believed that about 25-30% of FAP cases represent de novo germline mutations. This should probably be added to the WP article. A separate issue is that genetic testing "can be considered" when a "large number" of polyps is found on a single colonoscopy: in the USA, despite the condition classically being thought of as showing "hundreds to thousands" of polyps, some experts have deemed a "large number" to to be around 10 contemporaneous polyps, especially if present at a young age (not cumulative over multiple endoscopies). To return to the original question, as a gene, if the de novo mutation is now in the germline, it would be heritable by descendants. I'll see if I can find a good secondary source for these "thoughts" such as the ASCO guidelines, NCI monograph, or a textbook. The article would probably also benefit from: something that benchmarks the frequency to Lynch (about 5X as common as a cause of CRC if memory serves) would be helpful; cleaning up the grammar, particularly the discussion of MUTYH; adding "main page links" to the (excellent) relevant protein pages. FeatherPluma (talk) 19:45, 14 November 2011 (UTC)[reply]
There's an interesting news story on its genetics that might be an interesting jumping-off point for expanding the information on inheritance. The link is here.[1] WhatamIdoing (talk) 06:27, 2 January 2008 (UTC)[reply]

Merge Adenomatous polyposis coli into Familial adenomatous polyposis

Same condition! —Preceding unsigned comment added by Aroonkumar (talk • contribs) 09:39, 19 May 2011 (UTC)[reply]

Adenomatous polyposis coli and Familial adenomatous polyposis, AFAIK, are the same thing -- see: http://www.ncbi.nlm.nih.gov/omim/175100.

Familial adenomatous polyposis (Google) gets more hits on Google than Adenomatous polyposis coli (Google) (335,000 vs. 193,000).

A similar pattern is seen on PubMed; Familial adenomatous polyposis (PubMed) get more hits than Adenomatous polyposis coli (PubMed) (7357 vs. 6524). Thus, I propose the merge -- as above. Nephron  T|C 16:47, 20 March 2011 (UTC)[reply]

With regard to the above discussion -- it is true that de novo mutations can arise and there is a negative family history. I still think "familial" is a good descriptor as it is a germline mutation and would be passed on to offspring. Also, the same idea applies to other conditions -- they may arise de novo... but have "familial" in the name, e.g. Familial Mediterranean fever, Familial hypocalciuric hypercalcemia. Nephron  T|C 17:00, 20 March 2011 (UTC)[reply]
Oppose. This article is about the clinical condition, the other article is about the protein. It is usually appropriate to keep them seperate. JFW | T@lk 23:32, 20 March 2011 (UTC)[reply]
Okay. Hadn't thought about that. I will remove the notices. Nephron  T|C 03:48, 20 May 2011 (UTC)[reply]

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