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Jon Olis
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« on: February 16, 2009, 10:17:25 PM » |
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Thought it might be interesting to start accumulating some stats on the genetic tests we have of our members. Might shed some light on how many of us have undetectable mutations like me.
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« Last Edit: February 16, 2009, 10:44:55 PM by Jon Olis »
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Jon Olis
Diagnosed 6/04 Stage III CC, 7/16 Nodes, FAP
Subtotal Colectomy 6/04 failed, Ileostomy 6/04
6 months of chemo Folfox 4
Ileostomy Rev 1/05
Laser Endoscopy 8/05 perforated duodenum
Emergency surgery to repair perforation
Currently 4.5 years NED!
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Jon Olis
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« Reply #1 on: February 16, 2009, 10:43:30 PM » |
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Is that APC? If so you need to respond to the poll.  |
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Jon Olis
Diagnosed 6/04 Stage III CC, 7/16 Nodes, FAP
Subtotal Colectomy 6/04 failed, Ileostomy 6/04
6 months of chemo Folfox 4
Ileostomy Rev 1/05
Laser Endoscopy 8/05 perforated duodenum
Emergency surgery to repair perforation
Currently 4.5 years NED!
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Brenda B
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« Reply #2 on: February 17, 2009, 09:11:32 AM » |
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Yes, I have a mutation on Codon 501 of the APC gene.
Brenda
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1975 Total Colectomy; 1989 BCIR
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JDR
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« Reply #3 on: February 17, 2009, 07:48:28 PM » |
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Hi,
I have been told that I and 4 others of my family have a problem on the APC gene, unfortunately we have not been told any more than that. The blood tests were taken in 1992 after George was diagnosed with hepatoblastoma. We think my mother was the first but that was in late 1960's when she died and the link was not made until 1985 when my brother was diagnosed.
I will try and get more details.
John
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68 years, FAP diagnosed at 51 years (1992). Son had hepatoblastoma at 6 years (1992), chemotherapy, liver transplant then in 1997 the cancer came back in the chest. Died 1998. I had internal pouch 1993. I am chairman of the website based support group www.fapgene.org.uk ,we have been active 5 years |
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riders4
Full Member
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Gender: 
Posts: 28
Frank Rider
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« Reply #5 on: February 19, 2009, 09:36:22 AM » |
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In my case the answer remains pretty complicated, per our conference with the genetics folks at UNC yesterday:
Just got my latest (sequencing) test result back from Emory's lab (Atlanta) -- they found two mutations on my MYH gene, the relatively common (in those of us of European ancestry) G382D mutation, as well as a less common R242H mutation. The genetic counselor and genetic oncologist at UNC told my wife and me that the presence of the two mutations quite likely explains my polyposis - but since current testing is unable to determine whether both mutations are on the same copy of my MYH gene ("cis") or one is on each copy ("trans"), we still cannot be certain of that. Indeed, if they are on the same copy, then it is less likely an odontogenic cyst I had had removed 15 years ago is merely coincidental, and instead it could be that I have an APC coli (mutation) after all -- though it was undetected in my January APC coli test at Mayo Labs.
My whole team over at UNC agrees the significance of all this is primarily relevant to the question of testing and/or screeening/surveillance of my offspring and siblings, is not significant to my own treatment (I am scheduled for proctocolectomy and J-Pouch surgery in September), and potentially of interest in terms of potential extra-colonic manifestations.
Our next step, then, is to have my 8 y.o. son tested for the same MYH mutations already found in my DNA (as well as the relatively common Y165C mutation) to help determine the question of whether my mutations are on the same, or on both, copy(s) of my MYH gene.
~~ Frank ~~
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« Last Edit: June 04, 2009, 01:50:04 PM by riders4 »
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51 y.o. husband and dad; MYH-associated polyposis (two mutations), proctocolectomy, IPAA and J-Pouch surgery 09-10-09. Have recovered very well, adjusting to changes.
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Jon Olis
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« Reply #6 on: February 19, 2009, 10:50:31 AM » |
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Frank,
That is good news for your children. Congrats on that. I think the liklihood is very small on passing MYH. My understanding is your wife would need to have it as well.
Jon
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Jon Olis
Diagnosed 6/04 Stage III CC, 7/16 Nodes, FAP
Subtotal Colectomy 6/04 failed, Ileostomy 6/04
6 months of chemo Folfox 4
Ileostomy Rev 1/05
Laser Endoscopy 8/05 perforated duodenum
Emergency surgery to repair perforation
Currently 4.5 years NED!
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Charlotte
Jr. Member
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Gender: 
Posts: 16
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« Reply #7 on: February 22, 2009, 02:02:05 PM » |
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I just found out I have two MYH mutations - G382D and Y165C. I don't have the APC mutation.
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MYH Associated Polyposis
Subtotal Colectomy 4/21/09 (Ileum to Sigmoid Resection)
Hoping to Prevent Cancer
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AFAPatient
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« Reply #8 on: March 11, 2009, 04:53:22 PM » |
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I was tested last November and I have APC mutation c.311C>G(p.Ser104X) on APC exon 3 indicating familial polyposis.
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Jeannie Payne
Jr. Member
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Posts: 16
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« Reply #9 on: March 25, 2009, 01:04:38 PM » |
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My mutation is APC, 5996delC. When my son is older we will test him. I haven't convinced my sister to do testing yet.
-Jeannie
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Jennifer Bridges
Jr. Member
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Posts: 9
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« Reply #10 on: September 05, 2009, 05:45:43 AM » |
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I have an APC gene mutation. Single base substitution C1904->A1904 in exon 14.
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