In a study published in the New England Journal of Medicine, researchers have identified another gene mutation linked to an increased risk of breast cancer in women.
When mutated, the PALB2 gene increases the risk of a women developing breast cancer by the age of 70 by approximately 33%. Women with a PALB2 mutation and a family history of breast cancer have an even higher risk, about 60%.
This new evidence put PALB2 right behind the BRCA1 and BRCA2 genetic mutations as top genetic risk factor for developing breast cancer. The study authors state that about 1 in 1,000 women have the PALB2 mutation, an uncommon but significant risk. Knowing whether a patient is positive for a PALB2, BRCA1, or BRCA1
mutation can lead to better decision-making about a woman's health. If a woman were to undergo a mastectomy based on her increased genetic risk factors, her risk would decrease by about 90%. More frequent mammograms or MRI breast screenings could be recommended as well.
Despite the PALB2 gene's discovery in 2006, only now has it been linked to an increased risk of breast cancer. Genetic tests currently include PALB2, BRCA1 and BRCA2 mutation testing.
Mutated versions of a gene called PALB2 can dramatically increase a woman’s risk of breast cancer, a new study has found.
Women carrying the PALB2 mutation have a one in three chance of developing breast cancer by the age of 70, British researchers report in the Aug. 7 issue of the New England Journal of Medicine. The risk is even higher for women with a family history of breast cancer, the investigators found.
“If a mutation carrier has a strong family history, the risk would go up to about six in 10 by age 70,” said senior study author Marc Tischkowitz, a researcher with the department of medical genetics at the University of Cambridge.