Literature DB >> 33328582

Examining the uptake of predictive BRCA testing in the UK; findings and implications.

Karen Lynn Greenhalgh1, Munir Pirmohamed2,3, Antony P Martin4,5, Jennifer Downing2,3, Brendan Collins6, Brian Godman7,8,9, Ana Alfirevic2,3.   

Abstract

Predictive BRCA testing is offered to asymptomatic individuals to predict future risk where a variant has been identified in a relative. It is uncertain whether all eligible relatives access testing, and whether this is related to health care inequalities. Our aim was to analyse trends and inequalities in uptake of testing, and identify predictors of testing and time-to-receipt of testing. A database from April 2010 to March 2017 was collated. Multivariate analysis explored individual associations with testing. Predictor variables included gender, BRCA test type, cancer history, Index of Multiple Deprivation (IMD) and education status. To evaluate factors associated with time-to-testing, a Cox proportional-hazards (CP) model was used. Of 779 tests undertaken, 336 (43.1%) were identified with a BRCA variant. A total of 537 (68.9%) were female and in 83.4% (387/464) of probands, predictive testing was received by relatives. Analysis identified inequalities since decreased testing was found when the proband was unaffected by cancer (OR 0.14, 95% CI 0.06-0.33). Median time-to-testing was 390 days (range, 0-7090 days) and the CP model also identified inequalities in the hazard ratio (HR) for testing for people aged >40 was higher than for aged <40 (HR 1.41, 95% CI 1.20-1.67) and BRCA2 testing was higher than for BRCA1 testing (HR 1.39, 95% CI 1.18-1.64). Reduced testing was found when probands were unaffected by cancer and time-to-testing was found to vary by age and BRCA1/2 test. Given limited study sample size, further research is recommended to examine inequalities in predictive BRCA testing.

Entities:  

Mesh:

Substances:

Year:  2020        PMID: 33328582      PMCID: PMC8115171          DOI: 10.1038/s41431-020-00783-9

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  36 in total

Review 1.  The complexities of predictive genetic testing.

Authors:  J P Evans; C Skrzynia; W Burke
Journal:  BMJ       Date:  2001-04-28

2.  Population-Wide Screening for Germline BRCA1 and BRCA2 Mutations: Too Much of a Good Thing?

Authors:  Matthew B Yurgelun; Elaine Hiller; Judy E Garber
Journal:  J Clin Oncol       Date:  2015-08-17       Impact factor: 44.544

Review 3.  The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer.

Authors:  Lynn C Hartmann; Noralane M Lindor
Journal:  N Engl J Med       Date:  2016-02-04       Impact factor: 91.245

4.  Cancer risks for men with BRCA1/2 mutations

Authors:  Suzanne M Mahon
Journal:  Oncol Nurs Forum       Date:  2014-01-01       Impact factor: 2.172

5.  Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening.

Authors:  S Paluch-Shimon; F Cardoso; C Sessa; J Balmana; M J Cardoso; F Gilbert; E Senkus
Journal:  Ann Oncol       Date:  2016-09       Impact factor: 32.976

6.  Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing.

Authors:  Eric T Rosenthal; Brent Evans; John Kidd; Krystal Brown; Heidi Gorringe; Michael van Orman; Susan Manley
Journal:  J Am Coll Radiol       Date:  2016-12-20       Impact factor: 5.532

Review 7.  Global ovarian cancer health disparities.

Authors:  Ganna Chornokur; Ernest K Amankwah; Joellen M Schildkraut; Catherine M Phelan
Journal:  Gynecol Oncol       Date:  2012-12-22       Impact factor: 5.482

8.  Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2.

Authors:  Efrat Gabai-Kapara; Amnon Lahad; Bella Kaufman; Eitan Friedman; Shlomo Segev; Paul Renbaum; Rachel Beeri; Moran Gal; Julia Grinshpun-Cohen; Karen Djemal; Jessica B Mandell; Ming K Lee; Uziel Beller; Raphael Catane; Mary-Claire King; Ephrat Levy-Lahad
Journal:  Proc Natl Acad Sci U S A       Date:  2014-09-05       Impact factor: 11.205

9.  Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

Authors:  Elena Castro; Chee Goh; David Olmos; Ed Saunders; Daniel Leongamornlert; Malgorzata Tymrakiewicz; Nadiya Mahmud; Tokhir Dadaev; Koveela Govindasami; Michelle Guy; Emma Sawyer; Rosemary Wilkinson; Audrey Ardern-Jones; Steve Ellis; Debra Frost; Susan Peock; D Gareth Evans; Marc Tischkowitz; Trevor Cole; Rosemarie Davidson; Diana Eccles; Carole Brewer; Fiona Douglas; Mary E Porteous; Alan Donaldson; Huw Dorkins; Louise Izatt; Jackie Cook; Shirley Hodgson; M John Kennedy; Lucy E Side; Jacqueline Eason; Alex Murray; Antonis C Antoniou; Douglas F Easton; Zsofia Kote-Jarai; Rosalind Eeles
Journal:  J Clin Oncol       Date:  2013-04-08       Impact factor: 44.544

Review 10.  The biological effects and clinical implications of BRCA mutations: where do we go from here?

Authors:  Dominique Stoppa-Lyonnet
Journal:  Eur J Hum Genet       Date:  2016-09       Impact factor: 4.246

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.