BRCA1/2 testing rates in epithelial ovarian cancer: a focus on the untested patients

Lieke Lanjouw; Marian J E Mourits; Joost Bart; Arja Ter Elst; Lieke P V Berger; Annemieke H van der Hout; Naufil Alam; Geertruida H de Bock

doi:10.1136/ijgc-2023-004307

BRCA1/2 testing rates in epithelial ovarian cancer: a focus on the untested patients

Int J Gynecol Cancer. 2023 Aug 7;33(8):1260-1269. doi: 10.1136/ijgc-2023-004307.

Authors

Lieke Lanjouw¹, Marian J E Mourits², Joost Bart³, Arja Ter Elst³, Lieke P V Berger⁴, Annemieke H van der Hout⁴, Naufil Alam⁵, Geertruida H de Bock⁶

Affiliations

¹ Department of Epidemiology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands l.lanjouw@umcg.nl.
² Department of Obstetrics and Gynecology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
³ Department of Pathology and Medical Biology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
⁴ Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
⁵ AstraZeneca Pharmaceuticals LP, Cambridge, UK.
⁶ Department of Epidemiology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

Abstract

Background: Since 2015, Dutch guidelines have recommended BRCA1/2 pathogenic variant testing for all patients with epithelial ovarian cancer. Recently, recommendations shifted from germline testing to the tumor-first approach, in which tumor tissue is tested first, and subsequent germline testing is performed only in those with BRCA1/2 tumor pathogenic variants or a positive family history. Data on testing rates and on characteristics of patients missing out on testing remain scarce.

Objective: To evaluate BRCA1/2 testing rates in patients with epithelial ovarian cancer and compare testing rates of germline testing (performed from 2015 until mid-2018) versus tumor-first testing (implemented mid-2018).

Methods: A consecutive series of 250 patients diagnosed with epithelial ovarian cancer between 2016 and 2019 was included from the OncoLifeS data-biobank of the University Medical Center Groningen, the Netherlands. Testing rates were analyzed for the overall study population and for germline testing (period I) and tumor-first testing (period II) separately. Characteristics of tested and untested patients were compared and predictors for receiving testing were assessed with multivariable logistic regression.

Results: Median age was 67.0 years (IQR 59.0-73.0) and 173 (69.2%) patients were diagnosed with high-grade serous carcinoma. Overall, 201 (80.4%) patients were tested. In period I, 137/171 (80.1%) patients were tested and in period II this was 64/79 (81.0%). Patients with non-high-grade serous carcinoma were significantly less likely to receive BRCA1/2 testing than patients with high-grade serous carcinoma (OR=0.23, 95% CI 0.11 to 0.46, p<0.001).

Conclusions: The results show that BRCA1/2 testing rates are suboptimal and suggest that clinicians may not be choosing to test patients with epithelial ovarian cancer with non-high-grade serous ovarian carcinoma, although guidelines recommend BRCA1/2 testing in all patients with epithelial ovarian cancer. Suboptimal testing rates limit optimization of care for patients with epithelial ovarian cancer and counseling of potentially affected relatives.

Keywords: BRCA1 protein; BRCA2 protein; ovarian cancer.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Aged
BRCA1 Protein* / genetics
BRCA2 Protein / genetics
Carcinoma, Ovarian Epithelial / diagnosis
Carcinoma, Ovarian Epithelial / genetics
Female
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation
Humans
Ovarian Neoplasms* / diagnosis
Ovarian Neoplasms* / epidemiology
Ovarian Neoplasms* / genetics

Substances

BRCA1 protein, human
BRCA1 Protein
BRCA2 protein, human
BRCA2 Protein