Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service

AIOM (Italian Association of Medical Oncology). I numeri del cancro in Italia 2023. Available at https://www.aiom.it/i-numeri-del-cancro-in-italia/

Bono M, Fanale D, Incorvaia L, Cancelliere D, Fiorino A, Calò V, Dimino A, Filorizzo C, Corsini LR, Brando C, Madonia G, Cucinella A, Scalia R, Barraco N, Guadagni F, Pedone E, Badalamenti G, Russo A, Bazan V (2021) Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge. ESMO Open 6(4):100235. https://doi.org/10.1016/j.esmoop.2021.100235

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ et al (2017) Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA 317:2402–2416

Article  CAS  PubMed  Google Scholar 

Taylor A, Brady AF, Frayling IM, Hanson H, Tischkowitz M, Turnbull C, Side L (2018) UK cancer genetics group (UK-CGG). Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. J Med Genet. 55:372–377

Article  PubMed  Google Scholar 

Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S (2023) ESMO guidelines committee. Electronic ADDRESS: clinicalguidelines@esmo.org. risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO clinical practice guideline. Ann Oncol. 34:33–47

Article  CAS  PubMed  Google Scholar 

Telli ML, Gradishar WJ, Ward JH (2019) NCCN guidelines updates: breast cancer. J Natl Compr Canc Netw 1:552–555. https://doi.org/10.6004/jnccn.2019.5006

Article  Google Scholar 

Russo A, Incorvaia L, Capoluongo E, Tagliaferri P, Gori S, Cortesi L, Genuardi M, Turchetti D, De Giorgi U, Di Maio M, Barberis M, Dessena M, Del Re M, Lapini A, Luchini C, Jereczek-Fossa BA, Sapino A, Cinieri S (2022) Italian scientific societies. Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies. ESMO Open 7:100459

Article  CAS  PubMed  PubMed Central  Google Scholar 

Servizio Sanità Pubblica and Regione Emilia-Romagna (2016). Contributo n. 91/2016: “Protocollo Assistenziale nelle Donne a Rischio Ereditario di Tumore della Mammella e/o Ovaio”. Available at: http://salute.regione.emiliaromagna.it/documentazione/rapporti/contributi/contributi-n-91-protocollo-assistenziale-nelle-donne-a-rischio-ereditario-di-tumore-della-mammella-eo-ovaio-2016/view

Lindor NM, Guidugli L, Wang X, Vallee MP, Monteiro ANA, Tavtigian S et al (2012) A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mut 33:8–21. https://doi.org/10.1002/humu.21627

Article  CAS  PubMed  Google Scholar 

Eccles DM, Mitchell G, Monteiro ANA, Schmutzler R, Couch FJ, Spurdle AB et al (2015) BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance. Ann Oncol 26:2057–2065. https://doi.org/10.1093/annonc/mdv278

Article  CAS  PubMed  PubMed Central  Google Scholar 

Richter S, Haroun I, Graham TC, Eisen A, Kiss A, Warner E (2013) Variants of unknown significance in BRCA testing: impact on risk perception, worry, prevention and counseling. Ann. Oncol. 24:viii69–viii74. https://doi.org/10.1093/annonc/mdt31

Article  PubMed  Google Scholar 

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