How to determine biallelic CDK12 mutations?

Question

[Peter]

Recently I started the concerning mutations in CEBPA gene within patients with prostate cancer. I got two heterozygous for p.D52fs / p.S323* mutations from my wes data. Could anyone tell me how to clarify whether the different mutations were on the same allele or on different alleles?

Answer 1

[Benn]

With short reads you probably can't, WES is also not suitable for phasing (assuming that both mutations are in different exons). You can try a (long range) PCR covering the genomic region of both mutations, followed by (cloning and) Sanger sequencing, or confirm that there is no protein with western blot.

[Peter]

OK! Thank you for your help!

[finswimmer]

Hello Peter ,

Don't forget to follow up on your threads.

If an answer was helpful, you should upvote it; if the answer resolved your question, you should mark it as accepted. You can accept more than one if they work.

Please do the same for your previous posts as well.