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Real-World Impact of Olaparib Exposure in Advanced Pancreatic Cancer Patients Harboring Germline BRCA1-2 Pathogenic Variants.
Cancer Med
February 2025
Department of Medical Oncology, IRCCS Ospedale San Raffaele, Milan, Italy.
Introduction: Pancreatic cancer arising in the context of BRCA predisposition may benefit from poly(ADP-ribose) polymerase inhibitors. We analyzed real-world data on the impact of olaparib on survival in metastatic pancreatic cancer patients harboring germline BRCA mutations in Italy, where olaparib is not reimbursed for this indication.
Methods: Clinico/pathological data of pancreatic cancer patients with documented BRCA1-2 germline pathogenic variants who had received first-line chemotherapy for metastatic disease were collected from 23 Italian oncology departments and the impact of olaparib exposure on overall survival (OS) was analyzed.
BRCA functional domains associated with high risk of multiple primary tumors and domain-related sensitivity to olaparib: the Prometheus Study.
ESMO Open
January 2025
Department of Biomedicine, Neuroscience and Advanced Diagnostics (Bind.), Section of Medical Oncology, University of Palermo, Palermo, Italy.
Background: Germline pathogenic variants (gPVs) in the breast cancer susceptibility gene 1/2 (BRCA1/2) genes confer high-penetrance susceptibility to breast cancer (BC) and ovarian cancer (OC). Although most female BRCA carriers develop only a single BRCA-associated tumor in their lifetime, a smaller subpopulation is diagnosed with multiple primary tumors (MPTs). The genetic factors influencing this risk remain unclear.
View Article and Find Full Text PDFBRCA1/2 germline sequencing in children and adolescents with cancer: it is the context that matters.
J Natl Cancer Inst
January 2025
Department of Pediatrics, Division of Hematology-Oncology, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC H4A5S9, Canada.
Germline predisposition in multiple myeloma.
iScience
January 2025
Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
We present a study of rare germline predisposition variants in 954 unrelated individuals with multiple myeloma (MM) and 82 MM families. Using a candidate gene approach, we identified such variants across all age groups in 9.1% of sporadic and 18% of familial cases.
View Article and Find Full Text PDFProstate-specific antigen screening at low thresholds of men with pathogenic BRCA1/2 variants.
Prostate Cancer Prostatic Dis
January 2025
Copenhagen Prostate Cancer Center, Department of Urology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Background: Men with pathogenic BRCA1/2 variants are at higher risk of prostate cancer We included men with likely pathogenic/pathogenic (LP/P) variants in BRCA1/2 in a prostate-specific antigen (PSA) screening program after cascade germline testing since 2014. PSA was tested yearly and an age-specific low PSA threshold for biopsy was used, to determine if a low PSA threshold for biopsy is justified for men with pathogenic BRCA1/2 variants.
Methods: From 2014 to 2023 a total of 340 men were included in the program.
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