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A new study published in NEJM has found that women carriers of mutations in the PALB2 gene and having no family history of breast cancer have a one in three absolute risk of developing breast cancer by the age of 70. This risk increases to up to 58% for those with two or more first-degree relatives with breast cancer at 50 years of age.

The PALB2 gene (Partner And Localizer of BRCA2) encodes for a protein that interacts with BRCA2 during homologous recombination and double-strand break repair. This new research illustrates the importance of adding PALB2 testing to genetic testing for BRCA1/2 mutations.