My genetic story

[sanger]

Let me tell you guys my story.

In 2016, I went to the optometrist who discovered these weird marks at the back of my eye that did not affect my vision. I was then referred to an opthamolohist who told me they were highly associated with a mutation in the APC gene and that the colon cancer risk is increased immensely (virtually everyone with it gets cancer by age of 60). So of course I freaked the f*ck out mentally - Anyways ended up getting a panel of 11 genes sequenced.

Alhamdulillah no mutation in the APC gene

but they found a mutation in the MUTYH gene. The mutation was a variant of unknown significance and I only had 1 copy of it. Meaning I was fine as unlike APC, mutyh asscoated polyposis is recessive. Interestingly, according to the literature, the only other person with the same mutation as me is an italian guy (we wuz caucasoid?

I'm very interested to know if anyone has my variant. This is why we need a Somali genetic database

Anyone have any similar stories. I doubt it.

 

[yasmin lan]

Let me tell you guys my story.

In 2016, I went to the optometrist who discovered these weird marks at the back of my eye that did not affect my vision. I was then referred to an opthamolohist who told me they were highly associated with a mutation in the APC gene and that the colon cancer risk is increased immensely (virtually everyone with it gets cancer by age of 60). So of course I freaked the f*ck out mentally - Anyways ended up getting a panel of 11 genes sequenced.

Alhamdulillah no mutation in the APC gene

but they found a mutation in the MUTYH gene. The mutation was a variant of unknown significance and I only had 1 copy of it. Meaning I was fine as unlike APC, mutyh asscoated polyposis is recessive. Interestingly, according to the literature, the only other person with the same mutation as me is an italian guy (we wuz caucasoid?

I'm very interested to know if anyone has my variant. This is why we need a Somali genetic database

Anyone have any similar stories. I doubt it.

I’ll keep you in my duas inshallah you don’t get cancer and that you lead a healthy life My grandmother had breast cancer and I was really scared to get an injection which helped decrease my chances of getting it everytime I hear that word it makes me emotional they say there is a big chance I won’t have it but a girl can wonder

 

[Hades]

Welcome @sanger , I don't believe we've met.

All in all, your story is fascinating and It really is a good thing your optometrist caught on early, others probably would've assumed otherwise.
Well look on the bright side, at least you know which symptoms to look out for in the future (& hopefully you don't experience them)

 

[Apollo]

Most of the people interested in genetics here only are in it for the ancestry information. Most of us know little about the health side.

 

[Hybrid]

I don't have any mutation but I wish I was born with a myostatin mutation. People with this genetic condition have twice the usual amount of muscle mass so they look very lean and muscular.