Maccaroni E, Giampieri R, Lenci E, Scortichini L, Bianchi F, Belvederesi L, Brugiati C, Pagliaretta S, Ambrosini E, Berardi R. BRCA mutations and gastrointestinal cancers: When to expect the unexpected? World J Clin Oncol 2021; 12(7): 565-580 [PMID: 34367929 DOI: 10.5306/wjco.v12.i7.565]
Corresponding Author of This Article
Elena Maccaroni, MD, PhD, Doctor, Department of Oncology, Azienda Ospedaliera Universitaria Ospedali Riuniti di Ancona, Via Conca, 71, Ancona 60126, Italy. elena.maccaroni@ospedaliriuniti.marche.it
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Oncol. Jul 24, 2021; 12(7): 565-580 Published online Jul 24, 2021. doi: 10.5306/wjco.v12.i7.565
BRCA mutations and gastrointestinal cancers: When to expect the unexpected?
Elena Maccaroni, Riccardo Giampieri, Edoardo Lenci, Laura Scortichini, Francesca Bianchi, Laura Belvederesi, Cristiana Brugiati, Silvia Pagliaretta, Elisa Ambrosini, Rossana Berardi
Elena Maccaroni, Department of Oncology, Azienda Ospedaliero-Universitaria Ospedali Riuniti di Ancona, Ancona 60126, Italy
Riccardo Giampieri, Rossana Berardi, Department of Oncology, Università Politecnica delle Marche, Azienda Ospedaliero-Universitaria Ospedali Riuniti di Ancona, Ancona 60126, Italy
Edoardo Lenci, Laura Scortichini, Department of Oncology, Università Politecnica delle Marche, Ancona 60126, Italy
Francesca Bianchi, Laura Belvederesi, Cristiana Brugiati, Silvia Pagliaretta, Elisa Ambrosini, Molecular and Clinical Science Department, Università Politecnica delle Marche, Ancona 60126, Italy
Author contributions: All the authors contributed equally to designing and performing this research and have read and approved the final manuscript.
Conflict-of-interest statement: There are no conflicts of interest to be disclosed.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Elena Maccaroni, MD, PhD, Doctor, Department of Oncology, Azienda Ospedaliera Universitaria Ospedali Riuniti di Ancona, Via Conca, 71, Ancona 60126, Italy. elena.maccaroni@ospedaliriuniti.marche.it
Received: February 27, 2021 Peer-review started: February 27, 2021 First decision: May 4, 2021 Revised: May 17, 2021 Accepted: June 18, 2021 Article in press: June 18, 2021 Published online: July 24, 2021
Abstract
BRCA1/2 pathogenic variants are widely known as major risk factors mainly for breast and ovarian cancer, while their role in gastrointestinal (GI) malignancies such as colorectal cancer (CRC), gastric cancer and oesophageal cancer (OeC) is still not well established. The main objective of this review is to summarise the available evidence on this matter. The studies included in the review were selected from PubMed/GoogleScholar/ScienceDirect databases to identify published articles where BRCA1/2 pathogenic variants were assessed either as a risk factor or a prognostic/predictive factor in these malignancies. Our review suggests that BRCA1/2 might have a role as a risk factor for colorectal, gastric and OeC, albeit with differences among these diseases: In particular BRCA1 seems to be much more frequently mutated in CRC whereas BRCA2 appears to be much more closely associated with gastric and OeC. Early-onset cancer seems to be also associated with BRCA1/2 mutations and a few studies suggest a positive prognostic role of these mutations. The assessment of a potentially predictive role of these mutations is hampered by the fact that most patients with these diseases have been treated with platinum compounds, where it is expected that a higher probability of response should be seen. A few clinical trials focused on poly (ADP-ribose) polymerase inhibitors use in GI cancers are currently ongoing.
Core Tip: BRCA1/2 pathogenic mutations, other than increasing the risk of breast and ovarian cancer, may increase the risk of developing other types of cancers, such as prostate and pancreatic cancers. Our review highlights that BRCA mutations could also have a predisposing role to gastrointestinal tumours, in particular gastric, esophageal and colorectal cancer, thus playing an important role in terms of surveillance procedures and therapeutic options.
