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Review
. 2022 Aug;59(8):727-736.
doi: 10.1136/jmedgenet-2021-108238. Epub 2022 Apr 7.

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

Daria Grafodatskaya #  1   2 , Darren D O'Rielly #  3   4 , Karine Bedard  5   6 , Darci T Butcher  1   2 , Christopher J Howlett  7 , Alice Lytwyn  1   2 , Elizabeth McCready  1   2 , Jillian Parboosingh  8   9 , Elizabeth L Spriggs  10   11 , Andrea K Vaags  12   13 , Tracy L Stockley  14   15
Affiliations
Review

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

Daria Grafodatskaya et al. J Med Genet. 2022 Aug.

Abstract

The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based BRCA1 and BRCA2 (BRCA1/2) tumour testing in ovarian cancers. This document was drafted by the members of the Canadian College of Medical Geneticists (CCMG) somatic BRCA Ad Hoc Working Group, and representatives from the Canadian Association of Pathologists. The document was circulated to the CCMG members for comment. Following incorporation of feedback, this document has been approved by the CCMG board of directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. The current CCMG Practice Guidelines were developed as a resource for clinical laboratories in Canada; however, they are not inclusive of all information laboratories should consider in the validation and use of NGS for BRCA1/2 tumour testing in ovarian cancers.

Keywords: genetic testing; genetics; genetics, medical; germ-line mutation; loss of function mutation.

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Conflict of interest statement

Competing interests: DG and EMcC are principal investigators on the research grant funded by AstraZeneca. Funding was received by Hamilton Regional Laboratory Program. ELS’s institution (Shared Health) has received funding for test development from AstraZeneca, Shared Health Manitoba and CancerCare Manitoba Foundation. KB’s institution (Laboratoire de Diagnostic Moléculaire, Centre hospitalier de l’Université de Montréal) has received funding for test development from AstraZeneca. TLS has received grant for test development and honoraria for advisory boards related to ovarian cancer/ PARP inhibitors from AstraZeneca. AKV has received funding for test development and support for attending meeting/travel from AstraZeneca.

Figures

Figure 1
Figure 1
Examples of marking tumour area for dissection and estimation percent of tumour using H&E-stained sections. (A) Omentum; (B) omentum, 40× magnification, 50% tumour cellularity. High-grade serous carcinoma with solid nests and papillary-like clusters of malignant cells within a reactive fibroblastic stroma; (C) ovarian tumour, 95% tumour cellularity. Almost entirely high-grade serous carcinoma with papillary structures and slit-like spaces, with a small focus of background non-neoplastic fibrous tissue; (D) fallopian tube; (E) fallopian tube, 40× magnification, 10% tumour cellularity. Minute focus of residual high-grade serous carcinoma postinterval neoadjuvant chemotherapy, rimming papillary stromal cores. Approximately 20% cellularity in the circled area, within a background of reactive fibroblastic proliferation and chronic inflammatory cells; (F) omentum, 20% tumour cellularity.
See this image and copyright information in PMC

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