A systematic review and meta-analysis of germline BRCA mutations in pancreatic cancer patients identifies global and racial disparities in access to genetic testing

被引:9
作者
Paiella, S. [1 ]
Azzolina, D. [2 ]
Gregori, D. [3 ]
Malleo, G. [1 ]
Golan, T. [4 ]
Simeone, D. M. [5 ,6 ]
Davis, M. B. [7 ,8 ]
Vacca, P. G. [1 ]
Crovetto, A. [1 ]
Bassi, C. [1 ]
Salvia, R. [1 ]
Biankin, A., V [9 ,10 ,11 ]
Casolino, R. [9 ]
机构
[1] Univ Verona, Pancreas Inst, Gen & Pancreat Surg Unit, Verona, Italy
[2] Univ Ferrara, Dept Environm & Prevent Sci, Ferrara, Italy
[3] Univ Padua, Dept Cardiac Thorac Vasc Sci & Publ Hlth, Unit Biostat Epidemiol & Publ Hlth, Padua, Italy
[4] Tel Aviv Univ, Oncol Inst, Sheba Med Ctr Tel Hashomer, Tel Aviv, Israel
[5] NYU, Dept Surg, New York, NY USA
[6] NYU, Perlmutter Canc Ctr, New York, NY USA
[7] Weill Cornell Univ, Dept Surg & Surg Oncol, New York, NY USA
[8] Weill Cornell Univ, Englander Inst Precis Med, New York, NY USA
[9] Univ Glasgow, Wolfson Wohl Canc Res Ctr, Sch Canc Sci, Glasgow, Scotland
[10] Glasgow Royal Infirm, West Scotland Pancreat Unit, Glasgow, Scotland
[11] Univ NSW, Fac Med, South Western Sydney Clin Sch, Liverpool, Australia
基金
英国惠康基金; 英国工程与自然科学研究理事会;
关键词
pancreatic cancer; BRCA; germline testing; disparities; HOMOLOGOUS RECOMBINATION DEFICIENCY; PRECISION MEDICINE; FAMILY-HISTORY; ATM MUTATIONS; RISK; PREVALENCE; ADENOCARCINOMA; RACE/ETHNICITY; SURVEILLANCE; ASSOCIATION;
D O I
10.1016/j.esmoop.2023.100881
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Background: Germline BRCA1 and BRCA2 mutations (gBRCAm) can inform pancreatic cancer (PC) risk and treatment but most of the available information is derived from white patients. The ethnic and geographic variability of gBRCAm prevalence and of germline BRCA (gBRCA) testing uptake in PC globally is largely unknown.Materials and methods: We carried out a systematic review and prevalence meta-analysis of gBRCA testing and gBRCAm prevalence in PC patients stratified by ethnicity. The main outcome was the distribution of gBRCA testing uptake across diverse populations worldwide. Secondary outcomes included: geographic distribution of gBRCA testing uptake, temporal analysis of gBRCA testing uptake in ethnic groups, and pooled proportion of gBRCAm stratified by ethnicity. The study is listed under PROSPERO registration number #CRD42022311769.Results: A total of 51 studies with 16 621 patients were included. Twelve of the studies (23.5%) enrolled white patients only, 10 Asians only (19.6%), and 29 (56.9%) included mixed populations. The pooled prevalence of white, Asian, African American, and Hispanic patients tested per study was 88.7%, 34.8%, 3.6%, and 5.2%, respectively. The majority of included studies were from high-income countries (HICs) (64; 91.2%). Temporal analysis showed a significant increase only in white and Asians patients tested from 2000 to present (P < 0.001). The pooled prevalence of gBRCAm was: 3.3% in white, 1.7% in Asian, and negligible (<0.3%) in African American and Hispanic patients.Conclusions: Data on gBRCA testing and gBRCAm in PC derive mostly from white patients and from HICs. This limits the interpretation of gBRCAm for treating PC across diverse populations and implies substantial global and racial disparities in access to BRCA testing in PC.
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页数:13
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