Page 7 - CUA Presentation

Guideline Recommendations on Genetic Testing in Prostate Cancer

• Early PSA screening in patients with a FH • Germline testing in all men with high-risk/very • Early PSA screening in patients with a FH of PCa > • Patients with a first-degree relative
of PCa and age > 45 yrs high-risk regional or metastatic PCa 45 yrs diagnosed < 55 years
• Early PSA screening in BRCA2 carriers • Any patient with a FH of germline • Early PSA screening in BRCA1/2 carriers > 40 years • Personal diagnosis < 55 years and a first-
older > 40 yrs mutations/cancers should be considered for degree relative with PCa at any age, or
germline testing death of a first-degree relative < 60 yrs

• Early genetic sequencing of the primary • Consider somatic testing in MSI-H, dMMR or HRR • Germline testing for BRCA2 and other DDR genes • Patients with two close blood relatives
tumor/biopsy or metastasis at the state of genes for treatment selection in metastatic PCa associated with cancer predisposition syndromes on the same family side with at least one
metastasis and as soon as mCRPC in men with advanced PCa regardless of tumor diagnosed < 55 yrs
features or FH
• Ashkenazi Jewish ancestry • Consider somatic tumor testing for HRR and • Patients with any first-degree relative
dMMR genes in patients with mCRPC with hereditary PCa and a diagnosis < 50
yrs, or tumor sequencing showing
mutations in hereditary PCa genes

• Intraductal histology • Consider germline screening for men with • Patients with high-risk localized PCa and
localized PCa with a FH of hereditary cancer (e.g., a strong FH of specific cancers (BCa, OCa,
BCa, OCa or PCa) pancreatic, gastrointestinal, lymphoma)
• Patients with pathogenic mutations in cancer-risk • Offer germline testing to patients with
genes identified through tumor testing should be mHSPC and in patients with mCRPC
referred for germline testing and genetic regardless of age and FH
counseling

BCa breast cancer, DDR DNA-damage response, dMMR deficient mismatch repair, FH family history, HRR homologous recombinant repair, mCRPC metastatic castration-
resistant PCa, mHSPC metastatic hormone-sensitive PCa, MSI-H microsatellite instability–high, OCa ovarian cancer, PCa prostate cancer, PSA prostate-specific antigen

Kafka M et al. Mol Diagn Ther 2021;25:425–438