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Topic: CHEK2 p.S428F (c.1283C>T)

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Aug 13, 2020 01:17AM

Lumpykins wrote:

One of my docs (I forget which one) has described CHEK2 as the most common of the rare variants. However, any info I can find online focuses on the 1100 del. C type, but I was diagnosed with CHEK2 p.S428F (c.1283C>T). Pretty catchy name, right?

Looking for anyone else with the same version of this genetic variant or any information about it.

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