Surgical management of inherited breast cancer: Role of breast-conserving surgery Review


Authors: Magnoni, F.; Sacchini, V.; Veronesi, P.; Bianchi, B.; Bottazzoli, E.; Tagliaferri, V.; Mazzotta, E.; Castelnovo, G.; Deguidi, G.; Rossi, E. M. C.; Corso, G.
Review Title: Surgical management of inherited breast cancer: Role of breast-conserving surgery
Abstract: Recent studies have demonstrated that hereditary breast cancer (BC) has a prevalence of 5–10% among all BC diagnoses. Nowadays, significant technological advances in the identification of an increasingly broad spectrum of genetic mutations allow for the discovery of an ever-growing number of inherited pathogenic (P) or likely pathogenic (LP) variants of breast cancer susceptibility genes. As the management of BC patients carrying mutations in the BRCA1/2 genes or other highpenetrance genes is currently a challenge, extensive research is being carried out and a lively scientific debate has been taking place on what the most appropriate local therapy, especially surgical treatment, of patients with inherited BC should be. In many studies, BC outcomes in BRCA carriers and non-carriers have been compared. A number of them showed that, when compared with mastectomy, breast-conserving surgery in BRCA patients is oncologically safe in terms of overall survival, although an increased risk of ipsilateral recurrence was reported. In these patients, devising a specific therapeutic strategy is an inevitably complex process, as it must take into consideration a series of factors, require a multimodal approach, guarantee personalization, strictly adhere to scientific international guidelines, and consider all available evidence. The present narrative review purposes to identify and illustrate evidence from significant selected studies that discussed those issues, as well as to suggest useful tools to clinicians managing this specific clinical condition in daily clinical practice. © 2022 by the authors. Licensee MDPI, Basel, Switzerland.
Keywords: survival; treatment outcome; gene mutation; overall survival; review; cancer recurrence; postoperative period; cancer risk; cancer radiotherapy; disease free survival; nuclear magnetic resonance imaging; genetic association; practice guideline; uvomorulin; tumor suppressor gene; cancer specific survival; atm protein; outcome; checkpoint kinase 2; risk reduction; nipple-sparing mastectomy; skin-sparing mastectomy; local recurrence; atm gene; breast-conserving surgery; brca mutation; chek2 gene; high throughput sequencing; hereditary breast cancer; risk-reducing surgery; palb2 gene; metastasis free survival; human; brca gene; cdh1 gene; partner and localizer of brca2; breast cancer specific survival
Journal Title: Cancers
Volume: 14
Issue: 13
ISSN: 2072-6694
Publisher: MDPI  
Date Published: 2022-07-01
Start Page: 3245
Language: English
DOI: 10.3390/cancers14133245
PROVIDER: scopus
PMCID: PMC9265273
PUBMED: 35805017
DOI/URL:
Notes: Review -- Export Date: 1 August 2022 -- Source: Scopus
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  1. Virgilio Sacchini
    146 Sacchini