Abnormal PALB2 Gene Increases Breast Cancer Risk More Than Previously Thought

http://www.breastcancer.org/research-news/abnormal-palb2-gene-increases-risk

About 5% to 10% of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child.

Genes are short segments of DNA (deoxyribonucleic acid) found in chromosomes. DNA contains the instructions for building proteins. And proteins control the structure and function of all the cells that make up your body.

Think of your genes as an instruction manual for cell growth and function. Abnormalities in the DNA are like typographic errors. They may provide the wrong set of instructions, leading to faulty cell growth or function. In any one person, if there is an error in a gene, that same mistake will appear in all the cells that contain the same gene. This is like having an instruction manual in which all the copies have the same typographical error.

Many inherited cases of breast cancer are associated with two abnormal genes: BRCA1 (BReast CAncer gene one) and BRCA2 (BReast CAncer gene two). But changes in other genes also are linked to breast cancer.

A study has found that another gene may be just as important in breast cancer risk as BRCA1 and BRCA2: an abnormal PALB2 gene was found to increase breast cancer risk 5 to 9 times higher than average.

The research was published in the Aug. 7, 2014 issue of the New England Journal of Medicine. Read the abstract of “Breast-Cancer Risk in Families with Mutations in PALB2.”

The PALB2 gene is called the partner and localizer of the BRCA2 gene. It provides instructions to make a protein that works with the BRCA2 protein to repair damaged DNA and stop tumor growth. Inheriting two abnormal PALB2 genes causes Fanconi anemia type N, which suppresses bone marrow function and leads to extremely low levels of red blood cells, white blood cells, and platelets.

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