This is a genotype with recommended actions if clinically confirmed. In brief:
- PALB2 mutations are associated with an increased risk of breast cancer.
- A specialist genetics clinic should discuss and give written information on the absolute risks and benefits of all options for chemoprevention to women at high risk or moderate risk of breast cancer.
- Women with a PALB2 pathogenic variant could consider risk-reducing mastectomy based on their family history.
- Heterozygous female carriers of a PALB2 pathogenic variant are advised to undergo screening with annual mammography starting at age 30, and may consider screening with breast MRI.
- The breast cancer risk among females who have a germline pathogenic variant in PALB2 is estimated to increase by 2.3 to as high as 9-fold depending on the population, with a pooled risk estimate of 5.3 (90% CI: 3.0-9.4)
The full ClinGen Actionability report about PALB2-related cancers can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.