EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Sep 21, 2026

Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition linked to elevated cancer risk, and recent advances have changed diagnostic testing through new strategies, methods, and treatments. These EMQN best practice guidelines support clinical laboratories in managing HBOC testing complexities, using updated cancer risk data for commonly tested high- and moderate-risk genes. They provide recommendations for germline and somatic testing across referral, laboratory analysis, variant interpretation, and reporting, distinguishing essential “must” from advised “should” guidance, with standardized example reporting wording.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages10

Reading Time25 min

AccessFree to download

Introduction

HBOC genes

Multiple susceptibility risk alleles and polygenic risk scores

[www.nature.com/ejhg](www.nature.com/ejhg) REVIEW ARTICLE OPEN EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer Trudi McDevitt 1,13 ✉, Miranda Durkie 2,13, Norbert Arnold3, George J. Burghel 4, Samantha Butler5, Kathleen B. M. Claes Peter Logan7, Rachel Robinson8, Katie Sheils 9, Nicola Wolstenholme9, Helen Hanson 10, Clare Turnbull11 and Stacey Hume 6 , 12,13 © The Author(s) 2024, corrected publication 2024 | | Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about signiﬁcant changes to hereditary breast and ovarian cancer (HBOC) diagnostic testing with new treatments, testing methods and strategies, and evolving information on genetic associations. These best practice guidelines have been produced to assist clinical laboratories in effectively addressing the complexities of HBOC testing, while taking into account advancements since the last guidelines were published in 2007. These guidelines summarise cancer risk data from recent studies for the most commonly tested high and moderate risk HBOC genes for laboratories to refer to as a guide. Furthermore, recommendations are provided for somatic and germline testing services with regards to clinical referral, laboratory analyses, variant interpretation, and reporting. The guidelines present recommendations where ‘must’ is assigned to advocate that the recommendation is essential; and ‘should’ is assigned to advocate that the recommendation is highly advised but may not be universally applicable. Recommendations arepresented in the form of shaded italicised statements throughout the document, and in the form of a table in supplementary materials (Table S4) . Finally, for the purposes of encouraging standardisation and aiding implementation of recommendations, example report wording covering the essential points to be included is provided for the most common HBOC referral and reporting | | | --- | --- | --- | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | scenarios. These guidelines are aimed primarily at genomic scientists working in diagnostic testing laboratories. | | | | | European Journal of Human Genetics (2024) 32:479–488; [https://doi.org/10.1038/s41431-023-01507-5](https://doi.org/10.1038/s41431-023-01507-5) | | | | | | 1.0 INTRODUCTION Global estimates indicate that breast cancer (BC) is the most common female cancer diagnosis, accounting for approximately 24.8% of all female cancer diagnoses worldwide, and is the leading cause of female cancer death. Ovarian cancer (OC) accounts for approximately 4.4% of female cancer diagnoses. It is the eighth most common cancer occurring in women and the 2nd most common cause of gynaecological cancer death worldwide [1] . The general population incidence of male BC is ~1/1000 and represents approximately 1% of all BC cases [2] . Multigene panel (MGP) studies of known HBOC genes in large mixed patient cohorts suggest a pathogenic and/or likely pathogenic variant (PV) prevalence of approximately 8% in BC cases and 16% in OC cases; with PVs in BRCA1 and BRCA2 (BRCA1/2) accounting for approximately 50% and 80% of the total PVs respectively (Table S1) [3, 4] . Prevalence, associated risk and absolute risk data for PVs in genes most commonly present on HBOC MGPs are presented in Table S1 and Table S2 . Where available, data has been obtained from large prospective studies, and from studies comprising large numbers of patients tested by clinical testing laboratories. Table S1 presents data for known HBOC genes for which there is deﬁnitive data in support of an associated cancer risk. The genes listed in Table S2 are those for which the current evidence is limited or conﬂicting. In Tables S1 and S2, data on associated cancers other than BC and OC are provided for BRCA1, BRCA2 and PALB2 only

FAQs

What is the purpose of the EMQN best practice guidelines for HBOC genetic testing?

They help clinical laboratories address complexities in hereditary breast and ovarian cancer testing by providing updated, gene-focused risk guidance and practical recommendations for testing and reporting.

Which aspects of testing do the guidelines cover?

They include guidance for clinical referral, laboratory analysis, variant interpretation, and reporting for both somatic and germline testing services.

How do the guidelines distinguish between “must” and “should” recommendations?

“Must” marks recommendations essential to the practice, while “should” indicates guidance that is highly advised but may not apply universally.

Sep 21, 2026

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