Management of Hereditary Breast Cancer
Key Points
Key Points
- The integration of genomics into the care of oncology patients has led to an increasing population of breast cancer patients identified with germline (i.e., inherited) mutations in breast cancer susceptibility genes, requiring physicians to integrate this information into treatment decision-making.
- Pathogenic or likely pathogenic variants (commonly referred to as mutations) in high-penetrance breast cancer susceptibility genes increase the risk of breast cancer more than 4-fold.
- Germline mutations in BRCA1 or BRCA2 (BRCA1/2) are found in 3–4% of all women with breast cancer, including 10–20% of those with triple negative breast cancer and 10–15% of Jewish women with breast cancer.
- The lifetime risk of breast cancer for a BRCA mutation carrier varies from 50–90% based on populations studied, gene, study design and method of analysis.
- Other high-penetrance breast cancer susceptibility genes include PTEN (Cowden's Syndrome), TP53 (Li-Fraumeni Syndrome), STK11 (Peutz-Jeghers Syndrome), and CDH1 (Hereditary Invasive Lobular Breast-Diffuse Gastric Cancer).
- Mutations in more moderate-penetrance genes such as PALB2, CHEK2, and ATM occur in 4–6% of breast cancer patients with lifetime risk of 35%–60% (PALB2) and 25%–30% (ATM and CHEK2).
- Providers caring for breast cancer patients with germline BRCA1/2 mutations should discuss treatment options related to the index cancer and the increased risk of contralateral breast and new ipsilateral breast cancer.
Management
Manageme...
...tion 1.1Germline BRCA status should not pr...
...ion 1.2Surgical management of the ind...
...ommendation 1.3The following factors s...
...on 1.4BRCA1/2 mutation carriers who do not have bi...
Recommendation 2.1For women with newly...
...ion 2.2In breast cancer patients with...
...dation 2.3The evidence regarding contralateral...
...tion 2.4Patients with mutations in moderate-penet...
...ommendation 3.1For women with newly diag...
...on 3.2For women with newly diagnosed...
...ation 4.1For women with breast cance...
...mendation 4.2For women with breast...
...on 5.1For breast cancer patients with...
...n 5.2For breast cancer patients with a mutatio...
...6.1For women with breast cancer who are tr...
Recommendation 6.2For women with breast...
...tion 6.3For women with breast canc...
...mmendation 7When offering chemothe...
...dation 8For germline BRCA mutation carriers...
...tion 9.1For BRCA1/2 mutation carriers with...
...tion 9.2For breast cancer patients with mutati...
...ndation 10 – ASCO Recommendation Updat...
...e 1. Management of Hereditary Breast...
...t Cancer Who Have a BRCA1 or BRCA2 Mu...
...ocal Therapy Recommen...
.../Current Cancer Germline BRCA sta...
...Reduction/Second cancer The following factors s...
...Therapy Recommendations...
...ering chemotherapy for germline BRCA mutation...
...with Breast Cancer Who Have a Mutation in a Moder...
...herapy Recommendations...
...urrent Cancer For women with newly diagnose...
...ction/Second Cancer For women wi...
...Therapy Recommendations...
...cancer patients with mutations in moderate-pen...
...2. Clinical Stage + Pathologic Stage + ER sta...