In individuals with a PALB2 mutation, what is the probability of developing breast cancer?

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Individuals with a PALB2 mutation have a significantly increased risk of developing breast cancer, with estimates suggesting that the lifetime risk can reach up to 50%. The PALB2 gene plays a critical role in DNA repair and is associated with familial breast cancer syndromes. Research has demonstrated that women carrying a pathogenic variant in PALB2 have a risk of breast cancer that is comparable to those with BRCA2 mutations, which is also around that 50% threshold. This elevated risk underscores the importance of genetic counseling and screening for breast cancer in individuals with PALB2 mutations, especially considering the implications for management and prevention strategies.

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