BRCA mutations and gastrointestinal cancers:When to expect the unexpected?
作者机构：Department of Medical OncologyAzienda Ospedaliero-Universitaria Ospedali Riuniti di AnconaAncona 60126Italy Department of Medical OncologyUniversitàPolitecnica delle MarcheAncona 60126Italy Dipartimento di Scienze Cliniche e MolecolariUniversitàPolitecnica delle MarcheAncona 60126Italy
出 版 物：《World Journal of Clinical Oncology》 (世界临床肿瘤学杂志（英文版）)
年 卷 期：2021年第12卷第7期
页 面：565-580页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：BRCA Colorectal cancer Gastric cancer Esophageal cancer Prognosis Poly(ADP-ribose)polymerase inhibitors
摘 要：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 *** main objective of this review is to summarise the available evidence on this *** 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 *** 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 ***-onset cancer seems to be also associated with BRCA1/2 mutations and a few studies suggest a positive prognostic role of these *** 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(ADPribose)polymerase inhibitors use in GI cancers are currently ongoing.
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