أعرض في EDS

Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort

التفاصيل البيبلوغرافية
العنوان: Germinal BRCA1-2 pathogenic variants (gBRCA1-2pv) and pancreatic cancer: epidemiology of an Italian patient cohort
المؤلفون: Michele Reni, M. Macchini, Maria Grazia Rodriquenz, F. Centonze, G. Tortora, I.G. Rapposelli, S. De Lorenzo, Michele Simbolo, Paola Carrera, A. Avallone, F. De Vita, S. Calzavara, C. Chiarazzo, Marina Gaule, Giulia Orsi, Alessandro Cavaliere, Margherita Ratti, L. Stuppia, M. Di Marco, C. Paratore, Michele Milella, F. de Braud, Monica Niger, Lisa Salvatore, Davide Melisi, Stefano Cascinu, L.G. Forti, G. Giordano, M.M. Valente, Massimo Falconi, U. Peretti
المساهمون: U. Peretti, A. Cavaliere, M. Niger, G. Tortora, M. C. Di Marco, M. G. Rodriquenz, F. Centonze, I. G. Rapposelli, G. Giordano, F. De Vita, L. Stuppia, A. Avallone, M. Ratti, C. Paratore, L. G. Forti, G. Orsi, M. M. Valente, M. Gaule, M. Macchini, P. Carrera, S. Calzavara, M. Simbolo, D. Melisi, F. De Braud, L. Salvatore, S. De Lorenzo, C. Chiarazzo, M. Falconi, S. Cascinu, M. Milella, M. Reni, Peretti, U, Cavaliere, A, Niger, M, Tortora, G, Di Marco, M C, Rodriquenz, M G, Centonze, F, Rapposelli, I G, Giordano, G, De Vita, F, Stuppia, L, Avallone, A, Ratti, M, Paratore, C, Forti, L G, Orsi, G, Valente, M M, Gaule, M, Macchini, M, Carrera, P, Calzavara, S, Simbolo, M, Melisi, D, De Braud, F, Salvatore, L, De Lorenzo, S, Chiarazzo, C, Falconi, M, Cascinu, S, Milella, M, Reni, M, Peretti, U., Cavaliere, A., Niger, M., Tortora, G., Di Marco, M. C., Rodriquenz, M. G., Centonze, F., Rapposelli, I. G., Giordano, G., De Vita, F., Stuppia, L., Avallone, A., Ratti, M., Paratore, C., Forti, L. G., Orsi, G., Valente, M. M., Gaule, M., Macchini, M., Carrera, P., Calzavara, S., Simbolo, M., Melisi, D., De Braud, F., Salvatore, L., De Lorenzo, S., Chiarazzo, C., Falconi, M., Cascinu, S., Milella, M., Reni, M.
المصدر: ESMO Open
سنة النشر: 2020
مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, Adenocarcinoma, familial cancer, Prostate cancer, Pancreatic cancer, Internal medicine, Epidemiology, Medicine, Humans, Family history, Germ-Line Mutation, Aged, Original Research, pancreatic cancer genetics, Aged, 80 and over, BRCA2 Protein, business.industry, BRCA1 Protein, Incidence (epidemiology), Middle Aged, pancreatic cancer genetic, medicine.disease, germline BRCA, epidemiology, pancreatic cancer genetics, familial cancer, Pancreatic Neoplasms, Exact test, Oncology, Italy, germline BRCA, Cohort, Female, epidemiology, business, Human
الوصف: Objective Germline BRCA1-2 pathogenic variants (gBRCApv) increase the risk of pancreatic cancer and predict for response to platinating agents and poly(ADP-ribose) polymerase inhibitors. Data on worldwide gBRCApv incidence among pancreatic ductal adenocarcinoma (PDAC) patients are sparse and describe a remarkable geographic heterogeneity. The aim of this study is to analyze the epidemiology of gBRCApv in Italian patients. Materials and methods Patients of any age with pancreatic adenocarcinoma, screened within 3 months from diagnosis for gBRCApv in Italian oncologic centers systematically performing tests without any selection. For the purposes of our analysis, breast, ovarian, pancreas, and prostate cancer in a patient's family history was considered as potentially BRCA-associated. Patients or disease characteristics were examined using the χ2 test or Fisher's exact test for qualitative variables and the Student's t-test or Mann–Whitney test for continuous variables, as appropriate. Results Between June 2015 and May 2020, 939 patients were tested by 14 Italian centers; 492 (52%) males, median age 62 years (range 28-87), 569 (61%) metastatic, 273 (29%) with a family history of potentially BRCA-associated cancers. gBRCA1-2pv were found in 76 patients (8.1%; 9.1% in metastatic; 6.4% in non-metastatic). The gBRCA2/gBRCA1 ratio was 5.4 : 1. Patients with gBRCApv were younger compared with wild-type (59 versus 62 years, P = 0.01). The gBRCApv rate was 17.1% among patients 70 years old (none out of 94 patients >73 years old). gBRCApv frequency in 845 patients
Highlights • This is the largest case series of incident PDAC patients screened for germline BRCA1-2 pathologic variants (gBRCApv). • The incidence of gBRCA1-2pv was 8.1% in the whole population; 9.1% in metastatic patients; 6.4% in non-metastatic patients. • No gBRCA1-2pv was observed over the age of 73. • These data suggest screening all PDAC patients
وصف الملف: ELETTRONICO
تدمد: 2059-7029
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc764c9bb54985c2b23cccd2af443024
https://pubmed.ncbi.nlm.nih.gov/33399070
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....fc764c9bb54985c2b23cccd2af443024
قاعدة البيانات: OpenAIRE
الوصف
تدمد:20597029