Last year, actress Angelina Jolie allowed the public to see into her
private life when she announced that she underwent a prophylactic
mastectomy after testing positive for a BRCA mutation. Mutations in
the same genes also increase the risk of ovarian cancer.
Now, research shows that another gene, PALB2, when mutated, results in a
one in three chance of developing breast cancer by age 70. This makes
the mutated PALB2 nearly as a high a risk for breast cancer as the BRCA1
or BRCA2 mutations. PALB2 (Partner And Localizer of BRCA2) binds to
and co-localizes with BRCA2 in DNA repair. But mutations in PALB2 have
been identified in approximately 1-2% of familial breast cancer and 3-4%
of familial pancreatic cancer cases. Researchers found that women who
carried rare mutations in PALB2 had on average a 35 percent chance of
developing breast cancer by the time they were 70 years old. The risks
were highly dependent on family history of breast cancer and other
factors of course, but knowing what your own breast cancer risks are is
important. BRCA1 and BRCA2 are widely known as breast cancer risk
genes. Women with a mutation in one or both often decide to have their
breasts removed so they do not develop the disease.
The PALB2 mutation doesn’t make people certain to develop cancer, but
it’s another piece of information to help women make proper informed
choices about how they may help to minimize their own risk. Breast
cancer is the most common cancer in women worldwide.
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