The PALB2 gene normally protects us from breast cancer. It contains instructions to make a protein that works with the Breast Cancer 1 and 2 (BRCA1 and BRCA2) genes to repair changes in the DNA code and prevent tumor growth. A gene is a piece of the DNA code that we inherit from our parents. We have over 20,000 genes in all and we inherit two copies of each gene, one from our mother and one from our father. Each gene contains a specific set of instructions to help all the cells in our bodies to develop and function normally.
When a gene like PALB2 is altered (mutated) it may lead to the faulty cell growth and/or function, so someone with a gene alteration has a higher chance of developing certain types of cancer over their lifetime. Someone who inherits the mutated copy of PALB2 gene has an approximately a 30% – 60% chance of developing a breast cancer over their lifetime and a 50:50 (or 1 in 2) risk of handing it on to his or her children, male or female. See also: Implications for other family members. In addition, there is a small increased risk of developing pancreatic cancer and possibly breast cancer in males. It remains unclear if the PALB2 gene mutation also increases the risk for ovarian cancer.
There are two other keys genes called BRCA1 (Breast Cancer 1) and BRCA2 (Breast Cancer 2) that, if mutated, can increase the risk of developing breast and ovarian cancer. See also: What is BRCA1 and BRCA2 gene? The PALB2 gene has only been linked to breast cancer fairly recently. Compared to the BRCA1 and BRCA2, the mutations in PALB2 gene are rarer and we know much less about PALB2 gene.
We can only find out more with your support. Have you been found to have a PALB2 mutation or do you come from a family with a PALB2 mutation? We are keen to study individuals and families with PALB2 mutations from all over the world so we can learn more about them and help future generations. If you would like to know more about how you can help please email us at firstname.lastname@example.org or use the online form to get in touch.
Image: DNA (cropped) Credit: MIKI Yoshihito
License type: Attribution