Abstract CN22
Background
Genetic testing has been traditionally triggered by a familiar history (FH) of cancer or an early onset, although in metastatic PC (mPC) no differences in FH or age at diagnosis have been identified between carriers and non-carriers, leading to the recent recommendation of germline testing to all men with mPC. Considering the relatively high prevalence of PC, strategies to optimize germline testing in this population are needed.
Methods
Between January 2020 and April 2021, we offered germline testing to all mPC pts attending our clinic. DNA from leukocytes was screened for alterations in 19 genes: ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, HOXB13, MLH1, MRE11, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, XRCC2. The role of research nurses was to obtain both, a blood sample and the family history questionnaire. FH was defined as: 1 brother or father or ≥2 relatives with: PC <60 years; or died of PC; or had metastasic PC or a FH with ≥2cases within the HBOC or Lynch spectrum. The aim of this analysis was to ascertain whether the age or diagnosis or family history (FH) of cancer could be used to optimize germline testing in our population.
Results
122 pts were screened for germline mutations, resulting in 21,3% (26 pts) harbouring some genetic alteration. BRCA2 was the most frequently mutated gene at a rate of 53.8% (14 BRCA2, 2 BRCA1, 3 ATM, 2 FANCA, 1 CHEK2, 1 ERCC2, 1 PALB2, 1 RAD51C, 1 TP53) Median age at PC diagnosis was 62 years old. We did not find any significant difference in age at diagnosis between carriers and non-carriers (61 vs 62, p=0.0524). 15 of the 26 pts found to be carriers (58%) had a positive FH of cancer, compared to 25% of non-carriers (p=0.002). 42% of carriers lacked a FH of cancer.
Conclusions
Although FH is predictive of a germline mutation, its absence does not preclude the presence of such events. Germline testing should be offered to all men with mPC but the RN in the urology/oncology clinics can help to optimize testing by collecting detailed FH.
Clinical trial identification
Editorial acknowledgement
Legal entity responsible for the study
The authors.
Funding
Has not received any funding.
Disclosure
C. Llacer Perez: Financial Interests, Personal, Speaker’s Bureau: Roche; Financial Interests, Personal, Other, Travel, accommodation: Angellini; Financial Interests, Personal, Other, Travel, accommodation: Astellas. L. Oliva Fernandez: Financial Interests, Personal, Other, Travel, accommodation: EUSA Pharma. B. Herrera-Imbroda: Financial Interests, Personal, Advisory Role: Astellas; Financial Interests, Personal and Institutional, Research Grant: Astellas; Financial Interests, Personal, Advisory Role: Bayer; Financial Interests, Personal and Institutional, Research Grant: Bayer; Financial Interests, Personal, Advisory Role: Myriad Genetics; Financial Interests, Personal and Institutional, Research Grant: Myriad Genetics; Financial Interests, Personal, Advisory Role: Janssen; Financial Interests, Personal and Institutional, Research Grant: Janssen; Financial Interests, Personal, Advisory Role: Ipsen; Financial Interests, Personal and Institutional, Research Grant: Ipsen; Financial Interests, Personal, Advisory Role: Palex; Financial Interests, Personal and Institutional, Research Grant: Palex. D. Hernández: Financial Interests, Personal, Advisory Role: Janssen. M..I. Sáez: Financial Interests, Personal, Invited Speaker: Sanofi; Financial Interests, Personal, Invited Speaker: Janssen-Cilag; Financial Interests, Personal, Invited Speaker: BMS; Financial Interests, Personal, Other, Travel, accommodation: Roche; Financial Interests, Personal, Other, Travel, accommodation: Sanofi; Financial Interests, Personal, Other, Travel, accommodation: Pfizer. R. Villatoro: Financial Interests, Personal, Speaker’s Bureau: Roche; Non-Financial Interests, Personal, Advisory Role: Roche; Financial Interests, Personal, Other, Travel, accommodation: Roche; Financial Interests, Personal, Speaker’s Bureau: Sanofi; Non-Financial Interests, Personal, Advisory Role: Sanofi; Financial Interests, Personal, Other, Travel, accommodation: Sanofi; Financial Interests, Personal, Speaker’s Bureau: Bristol; Financial Interests, Personal, Other, Travel, accommodation: Bristol; Non-Financial Interests, Personal, Advisory Role: Bristol; Financial Interests, Personal, Speaker’s Bureau: Astellas; Non-Financial Interests, Personal, Advisory Role: Astellas; Financial Interests, Personal, Other, Travel, accommodation: Astellas; Financial Interests, Personal, Speaker’s Bureau: Janssen; Non-Financial Interests, Personal, Advisory Role: Janssen; Financial Interests, Personal, Other, Travel, accommodation: Janssen; Financial Interests, Personal, Speaker’s Bureau: MSD; Non-Financial Interests, Personal, Advisory Role: MSD; Financial Interests, Personal, Other, Travel, accommodation: MSD; Financial Interests, Personal, Speaker’s Bureau: Ipsen; Non-Financial Interests, Personal, Advisory Role: Ipsen; Financial Interests, Personal, Other, Travel, accommodation: Ipsen; Non-Financial Interests, Personal, Advisory Role: AstraZeneca; Financial Interests, Personal, Invited Speaker: AstraZeneca; Financial Interests, Personal, Invited Speaker: Kyowa Kirin; Non-Financial Interests, Personal, Advisory Role: Kyowa Kirin; Financial Interests, Personal, Invited Speaker: PM Pharma; Non-Financial Interests, Personal, Advisory Role: PM Pharma. A. Montesa Pino: Financial Interests, Personal, Advisory Role: Pfizer; Financial Interests, Personal, Advisory Role: Ipsen; Financial Interests, Personal, Advisory Role: Takeda; Financial Interests, Personal, Advisory Role: Janssen-Cilag; Financial Interests, Personal, Advisory Role: Astellas Pharma; Financial Interests, Personal, Advisory Role: Roche; Financial Interests, Personal, Advisory Role: Sanofi; Financial Interests, Personal, Advisory Role: Bristol-Myers Squibb. D. Olmos: Financial Interests, Personal, Invited Speaker: AstraZeneca; Financial Interests, Personal, Advisory Role: AstraZeneca; Financial Interests, Personal, Invited Speaker: Bayer; Financial Interests, Personal, Advisory Role: Bayer; Financial Interests, Personal, Advisory Role: Clovis; Financial Interests, Personal, Advisory Role: Daiichi-Sankyo; Financial Interests, Personal, Invited Speaker: Janssen; Financial Interests, Personal, Advisory Role: Janssen; Financial Interests, Personal, Invited Speaker: MSD; Financial Interests, Personal, Advisory Role: MSD; Financial Interests, Institutional, Research Grant: AstraZeneca; Financial Interests, Institutional, Research Grant: BAYER (&ORION); Financial Interests, Institutional, Principal Investigator: ROCHE; Financial Interests, Institutional, Research Grant: Janssen; Financial Interests, Institutional, Principal Investigator: MSD; Financial Interests, Institutional, Principal Investigator: Pfizer; Financial Interests, Personal, Other, Steering Committee Member: AstraZeneca; Financial Interests, Personal, Other, Steering Committee Member: Bayer; Financial Interests, Personal, Other, Steering Committee Member: F-Hoffman La Roche/Genetech; Financial Interests, Personal, Other, Steering Committee Member: Janssen; Financial Interests, Personal, Advisory Board: EORTC; Financial Interests, Personal, Other, Travel Support: AstraZeneca; Financial Interests, Personal, Other, Travel Support: Bayer; Financial Interests, Personal, Other, Travel Support: F-Hoffman La Roche/Genetech; Financial Interests, Personal, Other, Travel Support: Ipsen; Financial Interests, Personal, Other, Travel Support: Janssen. E. Castro: Financial Interests, Institutional, Research Grant: AstraZeneca; Financial Interests, Institutional, Research Grant: Bayer; Financial Interests, Institutional, Research Grant: Janssen; Financial Interests, Institutional, Research Grant: SYNLAB; Financial Interests, Personal, Advisory Role: AstraZeneca; Financial Interests, Personal, Advisory Role: Bayer; Financial Interests, Personal, Advisory Role: Janssen; Financial Interests, Personal, Advisory Role: MSD; Financial Interests, Personal, Advisory Role: Astellas; Financial Interests, Personal, Invited Speaker: AstraZeneca; Financial Interests, Personal, Invited Speaker: Astellas; Financial Interests, Personal, Invited Speaker: Bayer; Financial Interests, Personal, Invited Speaker: CLOVIS; Financial Interests, Personal, Invited Speaker: Janssen; Financial Interests, Personal, Invited Speaker: Roche; Financial Interests, Personal, Other, Travel and Accommodation: AstraZeneca; Financial Interests, Personal, Other, Travel and Accommodation: Bayer; Financial Interests, Personal, Invited Speaker, Travel and Accommodation: Janssen. All other authors have declared no conflicts of interest.