How common is the CHEK2 mutation?
How common is the CHEK2 mutation?
How common is the CHEK2 mutation?
The major finding of these studies is that CHEK2*1100delC is a low-penetrance breast cancer susceptibility allele with an allele frequency of about 1.5% in the general human population.
Is breast cancer autosomal dominant or recessive?
In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to increase a person’s chance of developing cancer.
How bad is CHEK2?
People born with a CHEK2 mutation have a higher risk of developing certain types of cancer. The risk of breast cancer in women with a CHEK2 mutation is believed to be at least double that of a woman without such a mutation.
What does CHEK2 positive mean?
Your testing shows that you have a pathogenic mutation (a disease-causing change in the gene, like a spelling mistake) or a variant that is likely pathogenic in the CHEK2 gene. Both of these results should be considered positive.
Is CHEK2 hereditary?
Both men and women can carry an inherited mutation in the CHEK2 gene. People with an inherited mutation in CHEK2 have increased risk for certain cancers. See the Cancer Risk section for more information. There are guidelines for screening and prevention for certain cancers in people with a CHEK2 mutation.
Does breast cancer skip generations?
It’s important to note that most women who get breast cancer do not have a family history of the disease. But women who have close blood relatives with breast cancer have a higher risk: Having a first-degree relative (mother, sister, or daughter) with breast cancer almost doubles a woman’s risk.
Is breast cancer hereditary on mother’s side?
So a woman who has a strong family history of breast or ovarian cancer on her father’s side (her dad’s mother or sisters) has the same risk of having an abnormal breast cancer gene as a woman with a strong family history on her mother’s side.
What chromosome is CHEK2 on?
Checkpoint kinase 2 (CHEK2, Chk2), the protein product of the CHEK2 gene that localizes to human chromosome 22q12. 1, represents a phylogenetically conserved signaling component within the cellular network that responds to DNA damage and protects genomic integrity (Bartek et al., 2001).
What does CHEK2 gene do?
The CHEK2 gene gives your body instructions for making a protein called CHK2, which acts as a tumor suppressor. This means it keeps cells from growing and dividing too quickly. When DNA becomes damaged or DNA strands break, the CHK2 protein works with other proteins, including TP53.
What are the chances of me getting breast cancer if my mom has it?
If you’ve had one first-degree female relative (sister, mother, daughter) diagnosed with breast cancer, your risk is doubled. If two first-degree relatives have been diagnosed, your risk is 5 times higher than average.