An international team of experts, including researchers from the University of Exeter, has developed new guidance to help doctors care for people who carry inherited genetic changes that increase their risk of developing certain cancers.
The guidance, published by the American College of Medical Genetics and Genomics (ACMG) in Genetics in Medicine, focuses on three genes - RAD51C, RAD51D and BRIP1 - which are linked to higher risks of ovarian cancer.
These genetic changes are being found more often as multi-gene panel testing becomes routine. The new resource offers clear, evidence-based advice for clinicians on how to assess cancer risk, plan screening, and consider preventive options for affected individuals and their families.
Dr Helen Hanson, Consultant in Clinical Genetics at the Royal Devon University NHS Foundation Trust, Associate Professor in Clinical Cancer Genetics at the University of Exeter Medical School, and senior author of the guidance, said: "This international resource provides practical, evidence-based advice for clinicians supporting people with inherited changes in these genes. It helps ensure that patients receive accurate information about their cancer risks and can make informed decisions about their health and wellbeing."
The guidance recommends that:
- Ovarian cancer prevention: Surgery to remove the ovaries and fallopian tubes may be considered around the time of menopause, based on each person's individual risk.
- Breast cancer screening: Enhanced breast screening may be appropriate for people with changes in RAD51C and RAD51D, while routine preventive mastectomy is generally not advised.
- Genetic result interpretation: Variants of uncertain significance should not be used to guide medical decisions, but patients should be kept informed if these results are reclassified.
The report also highlights the importance of personalised risk assessment, combining genetic results with family history and other factors, and of genetic counselling to help patients and families understand their options.
Dr Joanne Ngeow, Senior Consultant and Head of the Cancer Genetics Service at the National Cancer Centre Singapore and lead author of the paper, said: "Our guidance helps clinicians interpret genetic findings, explain cancer risks clearly, and make thoughtful decisions about prevention and screening."
The resource represents a major step in translating fast-moving genetic research into practical tools for everyday medical care, helping people with inherited cancer risks make informed choices for their future.
The paper entitled "Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)" is now published in Genetics in Medicine
