Our team’s reading recommendation for this month goes to “Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)”[i] by Tischkowitz et al., a precious practice resource published in “Genetics in Medicine“ in January 2021.
The objective of this practice resource is to provide guidance to medical geneticists and other clinicians managing PALB2 heterozygotes.
A workgroup of experts from different institutions in the USA, Canada, Europe, Australia and Asia identified and examined peer-reviewed publications and reported on their own experience to define recommendations based on consensus and their collective expertise.
As we know PALB2 variants are associated with increased cancer risk and PALB2 is considered the third most important breast cancer gene after BRCA1 and BRCA2, so the AMCG recommendations are of very high importance in helping clinicians provide quality medical services.
In particular, the ACMG recommends that
- Surveillance for breast cancer should be equivalent to that for BRCA1/2
- Risk-reducing mastectomy can be considered as an option. The decision should be guided by personalized risk assessment.
- Ovarian cancer surveillance should not be offered, and risk-reducing salpingo-oophorectomy should include shared decision making and should rarely be considered before the age of 50.
- Pancreatic cancer surveillance should be considered, but ideally as part of a clinical trial.
- PALB2 should be included in breast, ovarian, and pancreas germline cancer gene panels.
We at 4bases are proud to support medical geneticists and other clinicians all around the world thanks to our dedicated CE-IVD HEVA Screen panel in the extremely important mission of managing individuals with germline variants in PALB2.
[i] Tischkowitz M, Balmaña J, Foulkes WD, James P, Ngeow J, Schmutzler R, Voian N, Wick MJ, Stewart DR, Pal T; ACMG Professional Practice and Guidelines Committee. Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 May 11. doi: 10.1038/s41436-021-01151-8. Epub ahead of print. PMID: 33976419.