If you have a PALB2 mutation this means that you are at increased risk of breast cancer and your doctor may recommend increased surveillance using the combination of breast MRI and/or mammograms. The aim is to detect breast cancers at an earlier stage, when the cancer has a better prognosis and is easier to treat. Nevertheless be aware that no surveillance is perfect and it may miss cancers. Women with BRCA1/BRCA2 mutations are offered preventative removal of breast tissue which reduces the risk of breast cancer by 90-95%. At present we do not have enough long term data on the breast cancer risks in PALB2 mutation carriers to determine whether this should also be offered for PALB2.
We do not know what the risk of pancreas cancer is in men and women with PALB2 mutations but we think it is unlikely to be higher than 6% over a lifetime (which is the risk for BRCA2 mutation carriers). It is not clear whether surveillance for pancreas cancer is effective and until more data is available we do not recommend it outside of a clinical study.
It is unclear if there is an increased risk of ovarian cancer in PALB2 mutation carriers and we would not recommend having surgery to remove the ovaries (unless for other medical reasons) as a preventative measure. It is not clear whether screening for ovarian cancer is effective and we do not recommend it at the moment.
There is no evidence of an increased prostate risk, but studies have been small so far.
There is no evidence of increased risk for other cancers, but some types will not have been studied.
PALB2 and Fanconi Anemia
PALB2 is a rare cause of Fanconi Anemia (click here for more information on Fanconi Anemia). Individuals with one normal copy of the PALB2 gene and one mutated gene are called “carriers”. If two carriers of PALB2 mutations have children then there is a 1 in 4 chance that their child could be affected with Fanconi Anemia. In reality this is a very rare situation as carriers are rare in the general population. We estimate that around 1 in 770 people in the general population are PALB2 mutation carriers so the chances of a PALB2 carrier having a child affected with Fanconi Anemia would be less than 1 in 3000. There are some exceptions to this, for example if a PALB2 carrier has children with a related family member such as a cousin. If you have concerns we recommend you discuss this with a Genetic Counsellor or Medical Geneticist. See also: Implications for other family members
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