| Issue Number | 3304 |
|---|---|
| Summary | [Genetics Directory] Suggestion to add Birt-Hogg-Dube to List of Syndromes |
| Created | 2011-02-03 16:10:24 |
| Issue Type | Improvement |
| Submitted By | Juthe, Robin (NIH/NCI) [E] |
| Assigned To | Juthe, Robin (NIH/NCI) [E] |
| Status | Closed |
| Resolved | 2012-03-15 11:08:46 |
| Resolution | Fixed |
| Path | /home/bkline/backups/jira/ocecdr/issue.107632 |
BZISSUE::4996
BZDATETIME::2011-02-03 16:10:24
BZCREATOR::Robin Juthe
BZASSIGNEE::Robin Juthe
BZQACONTACT::Margaret Beckwith
Email from Cancer.gov user follows:
---Original Message
From: galina@myrovlytistrust.org galina@myrovlytistrust.org
Sent: Wednesday, February 02, 2011 10:04 AM
To: NCI Cancer.gov Staff
Subject: Cancer Genetics Services Directory request
Message: Hello,
I am inquiring regarding the Cancer Genetics Services Directory. For the
family cancer syndrome choices, in the Specialty box, would it be
possible to include Birt-Hogg-Dubé syndrome as well? BHD is an inherited
condition that leads to increased risk of renal cancer. Or would it be
necessary first for a genetics professional specializing in BHD to apply
to be listed in the directory? Thank you for your attention.
BZDATETIME::2011-10-04 09:16:20
BZCOMMENTOR::Robin Juthe
BZCOMMENT::1
I'm "reviving" this issue now that the application has been re-posted on Cancer.gov. I agree with adding BHD to the syndrome list, but there are several other syndromes in the Lindor et al. 2008 reference that may be worth adding as well (the 1998 reference listed 35 syndromes; the 2008 reference listed 55 syndromes). Would it be possible to make changes to the syndrome list at the same time as the changes in a related issue (OCECDR-3374) are made?
BZDATETIME::2011-10-12 16:49:58
BZCOMMENTOR::Robin Juthe
BZCOMMENT::2
I changed the component to CDR so that we discuss this issue together with OCECDR-3374 in tomorrow's CDR status meeting. I also added Volker and William to the cc: list.
BZDATETIME::2011-10-26 14:57:04
BZCOMMENTOR::Robin Juthe
BZCOMMENT::3
I'm attaching the list of syndromes from the application with all of the revisions from the 2008 Lindor/Greene reference made using Track Changes (except a few discrepancies which I described in comments).
It's not as simple as adding 20 more syndromes to the list (as I had hoped would be the case) since a lot of the names changed and a couple of them were deleted from the previous version.
Attachment Gen Direct List of Syndromes - changes from 2008 reference.doc has been added with description: Proposed Changes to List of Syndromes
BZDATETIME::2011-12-08 12:22:49
BZCOMMENTOR::Margaret Beckwith
BZCOMMENT::4
CIAT is doing analysis of the data changes that need to be made. I don't think there is anything from a CDR point of view that needs to be done right now, although once we get the new syndromes/cancer sites/cancer types entered, it will require changes to the mailer and changes to Cancer.gov application form.
BZDATETIME::2012-03-15 10:18:26
BZCOMMENTOR::William Osei-Poku
BZCOMMENT::5
Changes to the application on cancer.gov has been completed and no further work needs to be done so I am closing this issue.
Marking as resolved.
BZDATETIME::2012-03-15 10:19:32
BZCOMMENTOR::William Osei-Poku
BZCOMMENT::6
I just realized that I am not the QA for this issue so I will leave it open for now.
BZDATETIME::2012-03-15 11:08:46
BZCOMMENTOR::Margaret Beckwith
BZCOMMENT::7
Closing issue.
| File Name | Posted | User |
|---|---|---|
| Gen Direct List of Syndromes - changes from 2008 reference.doc | 2011-10-26 14:57:04 |
Elapsed: 0:00:00.001445