Uptake of Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis

被引：4

作者：

Ahsan, Muhammad Danyal ^{[1
]}

Chandler, Isabelle R. ^{[1
]}

Min, Samantha ^{[1
]}

Grant, Benjamin ^{[1
]}

Primiano, Michelle ^{[1
]}

Greenwald, Jamieson ^{[1
]}

Soussana, Tamar N. ^{[1
]}

Baltich Nelson, Becky ^{[1
]}

Thomas, Charlene ^{[1
]}

Chapman-Davis, Eloise ^{[1
]}

Sharaf, Ravi N. ^{[1
]}

Frey, Melissa K. ^{[1
]}

机构：

[1] Weill Cornell Med, New York, NY USA

来源：

CLINICAL OBSTETRICS AND GYNECOLOGY | 2024年 / 67卷 / 04期

关键词：

cascade genetic testing; hereditary breast and ovarian cancer; BRCA1; BRCA2; FAMILY COMMUNICATION; BRCA1/2; MUTATIONS; WOMEN; PARTICIPATION; STRATEGIES; CARRIERS; MEMBERS; RATES;

D O I：

10.1097/GRF.0000000000000895

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

This is a systematic review and meta-analysis evaluating the uptake of cascade genetic testing for hereditary breast and ovarian cancer syndrome. Among 30 studies included for meta-analysis, the uptake of cascade genetic testing was 33% (95% CI 25%-42%), with higher uptake rates among females compared with male relatives, and among first-degree compared with second-degree relatives. These findings indicate suboptimal uptake of cascade genetic testing among people at risk for hereditary breast and ovarian cancer syndrome, representing a missed opportunity for cancer prevention and early detection. There is a need for interventions to improve uptake rates.

引用

页码：702 / 710

页数：9

共 52 条

[1] Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing [J].

Agiannitopoulos, Konstantinos ;

Potska, Kevisa ;

Katseli, Anastasia ;

Ntogka, Christina ;

Tsaousis, Georgios N. ;

Pepe, Georgia ;

Bouzarelou, Dimitra ;

Tsoulos, Nikolaos ;

Papathanasiou, Athanasios ;

Ziogas, Dimitrios ;

Venizelos, Vassileios ;

Markopoulos, Christos ;

Iosifidou, Rodoniki ;

Karageorgopoulou, Sofia ;

Giassas, Stylianos ;

Natsiopoulos, Ioannis ;

Papazisis, Konstantinos ;

Vasilaki-Antonatou, Maria ;

Psyrri, Amanta ;

Koumarianou, Anna ;

Matthaios, Dimitrios ;

Zairi, Eleni ;

Blidaru, Alexandru ;

Banu, Eugeniu ;

Jinga, Dan Corneliu ;

Lacin, Sahin ;

Ozdogan, Mustafa ;

Papadopoulou, Eirini ;

Nasioulas, George .

CANCERS, 2023, 15 (21)

[2]

Ahsan MD, 2023, PEC INNOV, V2, DOI [10.1016/j.pecinn.2023.100138, 10.1016/j.pecinn.2023.100138]

[3] Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes [J].

Ahsan, Muhammad Danyal ;

Webster, Emily M. ;

Nguyen, Natalie T. ;

Qazi, Murtaza ;

Levi, Sarah R. ;

Diamond, Lisa C. ;

Sharaf, Ravi N. ;

Frey, Melissa K. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 (07) :723-724

[4]

Biesecker BB, 2000, AM J MED GENET, V93, P257, DOI 10.1002/1096-8628(20000814)93:4<257::AID-AJMG1>3.0.CO

[5]

2-8

[6] Testing participation in BRCA1/2-positive families:: Initiator role of index cases [J].

Blandy, C ;

Chabal, F ;

Stoppa-Lyonnet, D ;

Julian-Reynier, C .

GENETIC TESTING, 2003, 7 (03) :225-233

[7]

Bodd Trine Levin, 2003, J Genet Couns, V12, P405, DOI 10.1023/A:1025864703405

[8] The nuts and bolts of PROSPERO: An international prospective register of systematic reviews [J].

Alison Booth ;

Mike Clarke ;

Gordon Dooley ;

Davina Ghersi ;

David Moher ;

Mark Petticrew ;

Lesley Stewart .

Systematic Reviews, 1 (1)

[9] BRCA1/2 predictive testing:: a study of uptake in two centres [J].

Brooks, L ;

Lennard, F ;

Shenton, A ;

Lalloo, F ;

Ambus, I ;

Ardern-Jones, A ;

Belk, R ;

Kerr, B ;

Craufurd, D ;

Eeles, R ;

Evans, DG .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (08) :654-662

[10]

Center for Disease Control and Prevention, 2024, Tier 1 Genomic Applications Toolkit for Public Health Departments

← 1 2 3 4 5 6 →