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What Does My Genetic Test Report Indicate?

Posted on Wed, 18 May 2016

Question: Genetic testing revealed a variant Chek2 c.246_260dup. Is this significant with the MSH6 identified as Lynch Syndrome?

Answered by Dr. Diptanshu Das (2 hours later)

Brief Answer:
No direct correlation

Detailed Answer:
Thanks for asking on Health care magic.

There seems to be no direct link of this duplication with Lynch syndrome. However I would request you to upload the report for me to correlate properly.

Regards

Above answer was peer-reviewed by : Dr. Arnab Banerjee

Follow up: Dr. Diptanshu Das (22 hours later)

I have attached main page of genetic lab report for your review please. Thanks.

Answered by Dr. Diptanshu Das (1 hour later)

Brief Answer:
Acts as risk modifiers.

Detailed Answer:
Thanks for writing back.
I have checked the attached report.
Although CHEK2 mutations (as in your case) are not related directly to Lynch syndrome, they frquently act as risk modifiers. Going through the following should help:
http://www.YYYY.nl/YYYY/syndromedetails.aspx?SyndromeCode=430
http://www.YYYYY.org/an-update-on-the-pathogenesis-of-lynch-syndrome-recently-described-novel-molecular-mechanisms-2161-069X-3-151.php?aid=21289

Regards

Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar