Screening for BRCA gene mutation carriers in Hong Kong: Cancer Expert Working Group recommendations and the genes listed by the Department of Health's Breast Cancer Screening Pilot Programme
People who carry pathogenic gene mutations such as BRCA1, BRCA2 or Lynch syndrome have separate screening arrangements for breast cancer, colorectal cancer and others (Cancer Expert Working Group on Cancer Prevention and Screening, breast cancer recommendations June 2020, colorectal cancer recommendations June 2024); the Department of Health's Breast Cancer Screening Pilot Programme (Phase II) lists 9 genes (August 2026). Individual cases are decided by the treating doctor.
What does the Working Group recommend on genetic testing?
Genetic testing should be done at a cancer specialist centre with expertise in genetic counselling, and genetic counselling should be provided before testing (breast cancer recommendations of the Government's Cancer Expert Working Group on Cancer Prevention and Screening, June 2020; ‘the Working Group’ below); for who arranges testing and the referral criteria, see Family history of cancer: when is genetic counselling needed, and who arranges genetic testing?.
What are the screening recommendations for different cancers for people who carry pathogenic gene mutations?
The table below sets out the Working Group's screening recommendations for people without symptoms who carry inherited gene mutations or are at higher risk, listed by the year of each cancer's recommendation document; individual cases are decided by the treating doctor.
| Cancer (year of recommendation) | Working Group recommendation for people at higher risk or carrying gene mutations |
|---|---|
| Breast cancer (June 2020) | Women confirmed to carry a pathogenic BRCA1 or BRCA2 gene mutation are at high risk: they should seek medical advice and have a mammogram every year, starting from age 35 (for women with a family history, from age 35 or 10 years before the age at which the youngest affected relative was diagnosed, whichever is earlier, but not before age 30); an additional yearly magnetic resonance imaging (MRI) scan may also be considered |
| Colorectal cancer (June 2024) | For people who carry a Lynch syndrome gene mutation, a colonoscopy every one to two years starting from age 25; for people who carry a familial adenomatous polyposis gene mutation, a sigmoidoscopy every two years starting from age 12 |
| Ovarian cancer (April 2018) | Women at high risk because of a strong family history of breast or ovarian cancer, or because they carry certain inherited gene mutations (for example pathogenic BRCA1 or BRCA2 genes, or Lynch syndrome), should consider seeking medical advice to assess their risk of ovarian cancer and to decide whether and how screening should be done |
| Pancreatic cancer (June 2022) | Evidence is insufficient to recommend screening a higher-risk population by a uniform procedure; people whose risk is greatly increased by a strong family history of pancreatic cancer, a specific hereditary syndrome or certain inherited susceptibility features may consider seeking medical advice for an individual assessment |
| Prostate cancer (June 2026) | Higher-risk men who carry certain gene mutations (including a BRCA2 gene mutation) or have a family history of prostate cancer should consider seeking medical advice to decide whether and how screening should be done; the screening blood test generally considered is prostate-specific antigen (PSA), the ages to start and stop screening and the interval depend on the individual, and a digital rectal examination alone is not recommended |
Which genes does the Department of Health's Breast Cancer Screening Pilot Programme list?
Women whose genetic testing confirms certain gene mutations that increase their lifetime risk of breast cancer are at high risk; the genes include BARD1, BRCA1, BRCA2, CDH1, NF1, PALB2, PTEN, STK11 and TP53, and the gene list was updated on 26 February 2025 (Department of Health Breast Cancer Screening Pilot Programme Phase II ‘High-risk’ eligibility page, August 2026).
Participants must meet all of the following conditions: aged 35 to 74, holding a Hong Kong identity card or a certificate of exemption, enrolled in eHealth, at high risk, with no breast cancer symptoms and no history of breast cancer, and not having had a mammogram screening in the past year (unless one is due on a doctor's advice); women who had radiotherapy to the chest between the ages of 10 and 30, or who have a history of atypical ductal or lobular hyperplasia, should be followed up by the relevant doctor and are not eligible for the programme (Department of Health Breast Cancer Screening Pilot Programme eligibility page, August 2026). Apart from a gene mutation, a woman can also meet the high-risk criteria through a strong family history of breast or ovarian cancer, for example any first-degree female relative confirmed to carry a BRCA1 or BRCA2 gene mutation (Department of Health Breast Cancer Screening Pilot Programme, August 2026). Women with a family history of breast or ovarian cancer may start screening 10 years before the age at which the youngest affected family member was diagnosed, but not before age 30 (Department of Health Breast Cancer Screening Pilot Programme, August 2026).
For screening of women at high risk of breast cancer and the public and private routes, see How to choose a breast cancer doctor; for colorectal cancer screening, see How to choose a colorectal cancer doctor.
Frequently asked questions
If I carry a BRCA gene mutation, when does breast cancer screening start?
Women confirmed to carry a pathogenic BRCA1 or BRCA2 gene mutation are at high risk and should seek medical advice and have a mammogram every year, starting from age 35; for women with a family history, from age 35 or 10 years before the age at which the youngest affected relative was diagnosed, whichever is earlier, but not before age 30 (Cancer Expert Working Group on Cancer Prevention and Screening breast cancer recommendations, June 2020). Individual cases are decided by the treating doctor.
If I carry a Lynch syndrome gene mutation, when does colorectal cancer screening start?
People who carry a Lynch syndrome gene mutation should have a colonoscopy every one to two years starting from age 25, and people who carry a familial adenomatous polyposis gene mutation should have a sigmoidoscopy every two years starting from age 12 (Cancer Expert Working Group on Cancer Prevention and Screening colorectal cancer recommendations, June 2024). Individual cases are decided by the treating doctor.
Which genes does the Department of Health's Breast Cancer Screening Pilot Programme list?
BARD1, BRCA1, BRCA2, CDH1, NF1, PALB2, PTEN, STK11 and TP53; the gene list was updated on 26 February 2025, and the gene mutation must be confirmed by genetic testing (Department of Health Breast Cancer Screening Pilot Programme Phase II eligibility page, August 2026).