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Medicine: Genetics C‑class Mid‑importance

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HNPCC Registries

I'd like to create a faq comprised of links to different institutions that offer genetic counseling and specialized medical attention via registries, but I am unsure on the proper format (under external links or appropriate for its own section?) 71.242.244.186 02:34, 9 January 2007 (UTC)

Housekeeping of the HNPCC Article

The previous person to edit this article or maybe even originally write this article had a few style errors in regards to article format (too many bold usages, etc.). I fixed this, and added some relevant academic sources. I also added some interesting information. I don't have time now, but someone should definitely fix the diagnosis and genetics sections of this article. Removal of genetic criteria from the diagnosis section, as well as elaboration of the genetics in the appropriate section, would really make this article worth while. Cheers! WiiAlbanyGirl 08:10, 6 February 2007 (UTC)

excuse me, but what's up with

"Hereditary nonpolyposis colorectal cancer is responsible for approximately 2 percent to 7 percent of all diagnosed cases of pipinich has narcolepsy and grows special tomatoes colorectal cancer." in paragraph three or so? this sentence makes no sense.

Good call--it's gone. Wikicruft.--Dr.michael.benjamin 06:24, 25 April 2007 (UTC)

Move request

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I'd like to suggest that we make several changes here:

1. turn HNPCC into a stub (more or less)
2. Stop the redirect from Lynch Syndrome
3. Revise most of the content of the current HNPCC page to read "Lynch"
4. Put a link from HNPCC to Lynch.

My rationale is simply that Lynch is the underlying disorder and the new potential therapies for Lynch may have applicability outside of colon cancers. So, I think Lynch should be the single point of entry and it should be predominant over HNPCC. The goal here is to drive HNPCC traffic back to Lynch.

I have created a draft page here, but apparently this violates Misplaced Pages attribution rules, which I wasn't intending to do. The right way to do this is to request a move and invite discussion, so that is what I am doing. The link does gives an idea as to the new content. —Preceding unsigned comment added by Aetiologic (talk • contribs)

Thanks to Tim Song for guiding me through this wilderness.

Playing the devil's advocate here, since this does not appear to have attracted much attention:

• Per WP:NAME, we generally use the most common English name for the subject. Is the subject here more often called HNPCC or Lynch? Especially in reliable sources, like PubMed, etc.?
• You make a number of claims that I do not have the time to look at. Can you supply some reliable sources?

The big issue here is WP:NAME compliance. The other issue is more of an editing issue that does not matter that much. Big question here is whether HNPCC or Lynch is more commonly used. Tim Song (talk) 07:35, 5 November 2009 (UTC)

It's complicated because not all HNPCC is Lynch syndrome -- only about half of families with HNPCC will be found to have DNA mismatch repair deficiency -- and not all families with DNA mismatch repair deficiency are affected by the non-colorectal Lynch syndrome cancers. In practice, the two terms (HNPCC and Lynch syndrome) are often used interchangeably. For the sake of clarity, I would support Aetiologic's proposal and have the Lynch syndrome article represent the "flagship" article for this topic. The HNPCC article could be an abridged version that distinguishes between HNPCC/Lynch and HNPCC-X (which is the term being used to describe HNPCC that occurs in the absence of DNA mismatch repair defects). I would be happy to help out with the editing. --- Medical geneticist (talk) 02:45, 6 November 2009 (UTC)

This is an excellent suggestion, and one that I take as a friendly amendment. The need for a viable HNPCC page that discusses non-Lynch presentations may be beyond my scope, but is a point well taken and something I'd like to recruit assistance with. It is equally important to provide a richer resource for Lynch that does not focus just on HNPCC.

Tim, your concerns are well taken. As we are talking about a resource that patients will likely use in the first hours after diagnosis, it is important to get things right. So, I now track this issue with a search for "Lynch Syndrome" under pubmed, not HNPCC. I'll check the MESH headings to see what guidance they offer on this point. Lynch, however, is the proper name for a clustering of heritable cancers characterized by a genetic defect called mis-match repair. HNPCC is a diagnosis that has a strong Lynch component, but also a non-Lynch component too. The chief genetic culprits in Lynch are MSH-2, MSH-6 and other variants presented on the extant HNPCC page. The most common presentation is in the bowel, but there are cancers elsewhere (including female reproductive cancers) which are chiefly known as HNPCC. These bowel and non-bowel cancers share a single underlying pathological process - errant mismatch repair. But, it is mis-match repair (named after Henry Lynch) that is the proper designation. Some patients will continue to get HNPCC as the diagnosis, either because it takes a while to get clinicians up to speed, or when mis-match repair has been ruled out (HNPCC-X). Medical Geneticist is right to note that not all HNPCC is Lynch, and my earlier comments and the HNPCC page should reflect this.

These revisions have become vastly more important in recent weeks because of the results of a clinical trial (ECCO 15; Burn and colleagues) showing a marked beneficial effect of ASA in Lynch patients. I've revised the HNPCC page to report on this trial, and the page as revised encourages individuals with Lynch to consult their medical care teams. My goals are to reorganize the pages to that Lynch stands on its own, then to gently re-write the content for style, references, and content. My goal is getting the page more towards an "A" grade, as it will be an early hit for individuals and families with a new diagnosis. —Preceding unsigned comment added by Aetiologic (talk • contribs) 18:53, 7 November 2009 (UTC)

The terminology for HNPCC and Lynch is convoluted, and the relationship between the terms described above does not appear to be the consensus in recent publications. I think we stick with the OMIM approach for now. --Arcadian (talk) 20:15, 8 November 2009 (UTC)

The OMIM entry uses the "Lynch syndrome" terminology . Aetiologic's suggestion is in line with this. --- Medical geneticist (talk) 13:42, 10 November 2009 (UTC)

I am going to leave this discussion open a bit longer than the 7 day limit, and am concurrently seeking some input from NLM - their nosology shows similar fragmentation and lack of clarity. We all clearly see the need to clean up the page, recognize the importance of extra-colonic neoplasms in Lynch, recognize the role of HNPCC-x, etc. so I think we are all on the same page. Can anyone craft a consensus position? —Preceding unsigned comment added by 96.54.41.133 (talk) 22:36, 12 November 2009 (UTC)

I think that the most important thing is for the information on this page about "Lynch" and "X" versions to be put into the mainspace, with proper refs. That's what a ==Classification== (or similar) section is for. Whether we end up with one, two, or three articles, and which one is the "main" article (as if any person with "X" would agree that "Lynch" is most important -- or the other way around) is really unimportant to me. What's most important is providing the information, not some designation of relative importance that exists only in the editors' minds. WhatamIdoing (talk) 04:37, 16 November 2009 (UTC)

Agreed that the information is more important than the relative importance of the terms. However, efficient organization of the material (including whether one discusses nonpolyposis colon cancer as a general category, with HNPCC/Lynch and HNPCC-X as subtypes, or whether each deserves its own page) is a valid concern.

While we're at it, let's consider whether the redirects from colon cancer, familial and colon cancer, familial nonpolyposis are appropriate. I'm not sure that the general reader knows enough to distinguish between polyposis and non-polyposis colon cancer, and it seems like "colon cancer, familial" could be made into a nice short disambiguation page that points people toward the different types. Any thoughts? --- Medical geneticist (talk) 01:39, 26 November 2009 (UTC)

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