Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies

Russo, Antonio; Incorvaia, Lorena; Capoluongo, Ettore; Tagliaferri, Pierosandro; Gori, Stefania; Cortesi, Laura; Genuardi, Maurizio; Turchetti, Daniela; Giorgi, Ugo De; Maïo, Massimo Di; Barberis, Massimo; Dessena, M.; Re, Marzia Del; Lapini, A.; Luchini, Claudio; Jereczek-Fossa, B.A.; Sapino, Anna; Cinieri, Saverio; Beretta, Giordano D.; Bella, Maria Angela; Bracarda, Sergio; Colombo, Nicoletta; Conteduca, Vincenza; Mastro, Lucia Del; Galvano, Antonio; Gristina, Valerio; Guarneri, Valentina; Verde, Nicla La; Lorusso, Domenica; Marchetti, Paolo; Normanno, Nicola; Ottini, Laura; Pensabene, Matilde; Pignata, Sandro; Procopio, Giuseppe; Ricevuto, Enrico; Silvestris, Nicola; Tassone, Pierfrancesco; Tucci, Marco; Donato, Vittorio; Carrara, Sandro; Paiella, Salvatore; Gentilini, Oreste Davide; Gunelli, Roberta; Nicolis, F. B.; Buttitta, Fiamma; Colecchia, Maurizio; Fassan, Matteo; Malapelle, Umberto; Marchetti, Antonio; Marchiò, Caterina; Scarpa, Aldo; Truini, Mauro; Zamboni, Giuseppe; Gion, Massimo; Trevisiol, Chiara; Gronchi, Alessandro; Danesi, Romano; Marco, V. Di; Carrera, Paola; Ghiorzo, Paola; Pasini, Barbara; Varesco, Liliana; Artibani, Walter; Ludovico, Giuseppe; Campanella, Ornella; Vatrano, Simona; Tagliafico, Enrico

doi:10.1016/j.esmoop.2022.100459

Cited by 42 publications

(19 citation statements)

References 51 publications

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“…The implementation and clarification of the criteria for accessing the genetic testing in patients with PDAC and their families is warranted. In certain European contexts, such as in Italy, although the guideline remains restrictive (i.e., only the analysis of the PVs of BRCA1/2 is foreseen) [ 21 ], scientific societies, such as the Italian Association for the Study of the Pancreas (AISP), promoted a registry of subjects at increased risk of PDAC, starting a parallel prevention program [ 40 ]. The access criteria of this registry, in line with international recommendations [ 40 ], include the presence of PVs in several genes ( BRCA1/2 , CDKN2A , PALB1 , STK11 , and MMR, and, recently, ATM ) [ 40 , 41 , 42 ].…”

Section: Discussionmentioning

confidence: 99%

“…The current NCCN guideline [ 17 ] recommends that all patients affected by PDAC undergo germline genetic testing irrespectively of other factors (i.e., family history, age, synchronous/metachronous neoplasms). Oher guidelines for the genetic testing of patients with PDAC are rather restrictive, indicating the analysis of BRCA 1/2 only in patients with metastatic neoplasia (for accessing second-line chemotherapy), and in subjects with a relevant family history (i.e., at least two first-degree relatives with PDAC or ≥three members diagnosed with PDAC) [ 21 , 22 , 23 ]. Testing for PVs in other genes is regulated by guidelines concerning organ-specific predisposing syndromes (i.e., CRC, breast cancer, gynecological cancer, and melanoma).…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis

Buono

Poliani

Greco

et al. 2023

Cancers

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We investigate the prevalence of germline mutations in cancer predisposition genes in patients with pancreatic ductal adenocarcinoma (PDAC) or suspected related hereditary syndromes. Methods: we enrolled for NGS with an Illumina TrueSight Cancer panel comprising 19 CPGs and 113 consecutive subjects referred to cancer genetic clinics for metastatic PDAC, early onset PDAC, suspected hereditary syndrome, or positive family history. Results: Overall, 23 (20.1%) subjects were carriers of 24 pathogenetic variants (PVs). We found 9 variants in BRCA2 (37.5%), 6 in CDKN2A (25%), 3 in ATM (12.5%), 2 in BRCA1 (8.3%), 1 in CHEK2 (4.1%), 1 in PALB2 (4.1%), 1 in MITF (4.1%), and 1 in FANCM (4.1%). A double PV (BRCA1 plus BRCA2) was found in 1 subject. We observed a nearly 30% (16/55) mutational rate in the subgroup of subjects tested for the suspected syndromes (PDAC and other synchronous or metachronous tumors or an indicative family history), and the frequency was significantly higher than that in patients with only metastatic PDAC (p = 0.05). In our cohort, 39 variants of unknown significance (VUS) were identified, most of which (16/39, 41%) in genes belonging to the Lynch syndrome spectrum. Conclusion: A clinically relevant proportion of pancreatic cancer is associated with mutations in known predisposition genes. Guidelines instructing on an adequate selection for accessing genetic testing are eagerly needed. The heterogeneity of mutations identified in this study reinforces the value of using a multiple-gene panel in pancreatic cancer.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis

Buono

Poliani

Greco

et al. 2023

Cancers

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“…There were also appreciable numbers of patients in the United States (18%) and the EU4 (10%), but not Israel, who received s BRCA1/2 mut-only testing. Although patients with metastatic breast cancer with an s BRCA1/2 mut have been shown to respond to PARPi [ 23 , 24 ], PARPi have not been approved to treat this patient group. The ESMO international consensus guidelines indicate that the therapeutic implications of s BRCA1/2 mut in patients with breast cancer need further evaluation and should not be used for decision-making in clinical practice [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

BRCA1/2 Mutation Testing in Patients with HER2-Negative Advanced Breast Cancer: Real-World Data from the United States, Europe, and Israel

Mahtani

Niyazov

Arondekar

et al. 2022

Cancers

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Poly(adenosine diphosphate-ribose) polymerase inhibitors are approved to treat patients harboring a germline breast cancer susceptibility gene 1 or 2 mutation (BRCA1/2mut) with human epidermal growth factor receptor 2—negative (HER2−) advanced breast cancer (ABC). This study evaluated differences in patient demographics, clinical characteristics, and BRCA1/2mut testing within the United States (US), European Union 4 (EU4; France, Germany, Italy, and Spain), and Israel in a real-world population of patients with HER2− ABC. Oncologists provided chart data from eligible patients from October 2019 through March 2020. In the US, EU4, and Israel, 73%, 42%, and 99% of patients were tested for BRCA1/2mut, respectively. In the US and the EU4, patients who were not tested versus tested for BRCA1/2mut were more likely to have hormone receptor—positive (HR+)/HER2− ABC (US, 94% vs. 74%, p < 0.001; EU4, 96% vs. 78%, p < 0.001), less likely to have a known family history of BRCA1/2-related cancer (US, 6% vs. 19%, p = 0.002; EU4, 10% vs. 28%, p < 0.001), and were older (US, 68.9 vs. 62.5 years, p < 0.001; EU4, 66.7 vs. 58.0 years, p < 0.001). Among tested patients, genetic counseling was received by 45%, 53%, and 98% with triple-negative breast cancer, and 36%, 36%, and 98% with HR+/HER2− ABC in the US, EU4, and Israel, respectively. Efforts should be made to improve BRCA1/2 testing rates in the US and Europe.

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“…There are currently some clear criteria for conducting genetic counseling and testing for BRCA1/BRCA2 status in patients with BC [32][33][34][35]. It is recommended mainly in patients with some personal and family history (e.g.…”

Section: Discussionmentioning

confidence: 99%

Tumor-infiltrating lymphocytes and levels of PD-L1 and BRCA protein expression may identify patients with breast cancer with a higher rate of BRCA1 mutations

Dimitrova

Popovska²,

Yordanov³

2022

Nowotwory. Journal of Oncology

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Tumor-infiltrating lymphocytes and levels of PD-L1 and BRCA protein expression may identify patients with breast cancer with a higher rate of BRCA1 mutations. NOWOTWORY J Oncol 2022; 72 (Ahead of print).This article has been peer reviewed and published immediately upon acceptance.It is an open access article, which means that it can be downloaded, printed, and distributed freely, provided the work is properly cited.

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Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies

Cited by 42 publications

References 51 publications

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis

Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis

BRCA1/2 Mutation Testing in Patients with HER2-Negative Advanced Breast Cancer: Real-World Data from the United States, Europe, and Israel

Tumor-infiltrating lymphocytes and levels of PD-L1 and BRCA protein expression may identify patients with breast cancer with a higher rate of BRCA1 mutations

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