IllnessProstate cancer, germline mutations [NCCN guidelines]
Summary
Comprehensive panel for Prostate cancer, germline mutations [NCCN guidelines] containing 3 core genes and altogether 11 guideline-curated genes
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
ATM | 9171 | NM_000051.4 | AR | |
BRCA1 | 5592 | NM_007294.4 | AD | |
BRCA2 | 10257 | NM_000059.4 | AD | |
CHEK2 | 1632 | NM_007194.4 | AD | |
FANCA | 4368 | NM_000135.4 | AR | |
HOXB13 | 855 | NM_006361.6 | n.k. | |
MLH1 | 2271 | NM_000249.4 | AR | |
MSH2 | 2805 | NM_000251.3 | AR | |
MSH6 | 4083 | NM_000179.3 | AR | |
PALB2 | 3561 | NM_024675.4 | AD | |
PMS2 | 2589 | NM_000535.7 | Sus, AD |
Informations about the disease
Some prostate cancer patients have germline mutations that may also be identified in hereditary breast and ovarian cancers (DNA repair genes) and Lynch syndrome (DNA mismatch repair genes). 11% of patients with prostate cancer and at least one additional primary cancer carry germline mutations associated with increased cancer risk. DNA testing should be offered to prostate cancer patients with any of the following characteristics according to the "NCCN guidelines": positive family history; high-risk, regional or metastatic prostate cancer (regardless of family history); Ashkenasim; intraductal carcinoma. Although most cases are likely to have a multifactorial genesis, patients (and their family members, if applicable) should be able to be informed of familial risks on the one hand and treatment options on the other. The DNA-diagnostic yield is currently unknown.
Reference: https://jnccn.org/view/journals/jnccn/17/5/article-p479.xml
https://www.ncbi.nlm.nih.gov/books/NBK1247/
- Alias: Prostata-Karzinom, familiäres
- Alias: Prostate cancer, familial
- Allelic: Breast cancer, susceptibility to (ATM)
- Allelic: Breast cancer, susceptibility to (CHEK2)
- Allelic: Breast cancer, susceptibility to (PALB2)
- Allelic: Breast-ovarian cancer, familial, 1 (BRCA1)
- Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
- Allelic: Colorectal cancer, susceptibility to (CHEK2)
- Allelic: Li-Fraumeni syndrome 2 (CHEK2)
- Allelic: Wilms tumor (BRCA2)
- Ataxia-telangiectasia (ATM)
- Fanconi anemia, complementation group A (FANCA)
- Fanconi anemia, complementation group D1 (BRCA2)
- Fanconi anemia, complementation group N (PALB2)
- Fanconi anemia, complementation group S (BRCA1)
- Mismatch repair cancer syndrome 1, 2, 3, 4 (MLH1, MSH2, MSH6, PMS2)
- Prostate cancer (BRCA2)
- Prostate cancer, familial, susceptibility to (CHEK2)
- Prostate cancer, hereditary, 9 (HOXB13)
- AD
- AR
- Sus
- n.k.
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined