Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
Filippo MarinoAngelo TotaroCarlo GandiRiccardo BientinesiStefano MorettoFilippo GaviFrancesco PiercontiRoberto IacovelliPierFrancesco BassiEmilio SaccoPublished in: Prostate cancer and prostatic diseases (2022)
Emerging data show that germline mutations in homologous recombination genes (BRCA1/2, ATM, CHECK2), in mismatch repair genes (MLH1, MLH2, MSH6), and other additional genes are associated with the development and aggressiveness of PCa. Germline testing and genetic counseling have increasingly important implications in cancer screening and therapeutic decisions making for patients affected by PCa. Patients with localized PCa and some gene mutations are more likely to develop aggressive cancer, so active treatment may be preferable to active surveillance for these patients. Moreover, in patients with metastatic PCa, these gene alterations may be useful biomarkers for predicting response to specific therapy such as PARP inhibitors, recently approved for the treatment of metastatic castration-resistant PCa. The evidence supports recent guidelines and recommendations considering germline genetic testing for patients with a positive family history of PCa or men with high risk or metastatic disease.
Keyphrases
- dna repair
- prostate cancer
- genome wide
- end stage renal disease
- dna damage
- newly diagnosed
- ejection fraction
- squamous cell carcinoma
- small cell lung cancer
- papillary thyroid
- prognostic factors
- peritoneal dialysis
- genome wide identification
- stem cells
- radical prostatectomy
- deep learning
- electronic health record
- dna damage response
- bone marrow
- replacement therapy
- transcription factor
- cell therapy
- lymph node metastasis
- childhood cancer
- data analysis