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Gene variants: Anyone dealt with ATR and HSD381 with any success?

Posted by namrac @namrac, Oct 18 5:01pm

I had a comprehensive Germline panel done before my RP in January of 23 . Unfortunately I had two variants ATR which it seems no one has a clue, and HSD381 which is a major concern. I started on ADT in April of 23 which reduced my PSA from .13 to less than .01. Yesterday I had results from my latest PSA which resulted in .02 . I realize that .02 could be a lab error or just a bump however, I just want to prepare myself. My question is has anyone delt with this variant with any success? Currently my Testosterone level is 15 ng/dl, free 3 ,

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jeffmarc | @jeffmarc | Oct 18 7:30pm

Never heard of anyone with HSD381 or ATR. These must be more recently discovered anomalies. I just checked two different genetic tests and found that these are the only anomalies looked for at the time.

APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, PTEN, RAD51C, RAD51D, RECQL, SMAD4, SMARCA4, STK11 and TP53(sequencing and deletion/duplication); HOXB13, POLD1 and POLE (sequencing only); EPCAM and GREM1 (deletion/duplication only).

If no one knows about these results you have, you might want to go over Ancan.org and attend an advanced prostate cancer meeting. They hold them every week for two hours. they’ve been helping people with prostate cancer problems for over 15 years and may be familiar with these.

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namrac | @namrac | Oct 18 10:41pm

Here is a link that tells a a bit about this . https://gopathdx.com/blog/tpost/dulc26tk01-hsd3b1-1245c-a-risk-allele-for-resistanc and https://geneticsnow.com/prostatenow . This is from the website " ROSTATENOW is the only germline panel that includes genotyping of HSD3B1 1245C, an important biomarker in predicting response to androgen deprivation therapy (ADT). This common risk allele in HSD3B1 is associated with increased resistance to ADT and patients carrying this variant display shorter time to development of castrate-resistant prostate cancer.

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