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.

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.

How many people have CHEK2?

The CHEK2*1100del mutation is most commonly seen in individuals of Eastern and Northern European descent. Within these populations the CHEK2*1100delC mutation is seen in 1 out of 100 to 1 out of 200 individuals. However, in North America the frequency drops to 1 out of 333 to 1 out of 500.

What cancer has CHEK2 mutation?

Individuals with CHEK2 gene mutations have an increased risk for cancers of the breast, colon, prostate, and possibly thyroid and kidney.

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.

Does 23andMe test for CHEK2?

About 2% of all Ashkenazi Jewish people—regardless of personal or family history of cancer—will carry one of the 3 mutations in the 23andMe test. However, even Ashkenazi Jewish people can have a mutation in one of the over 5,000 other BRCA mutations, or in another gene like CHEK2, ATM or PALB2.

Is BRCA1 a death sentence?

Having a mutated BRCA1 gene can mean a death sentence for those affected. Those with the faulty gene have up to an 87% lifetime risk of developing breast cancer and up to a 60% lifetime risk of being diagnosed with ovarian cancer.

Is CHEK2 mutation rare?

Although CHEK2 mutations are rare, the risk of developing breast cancer is higher in carriers of truncating mutations. This risk is correlated with family history and increases when the carriers have first- and second-degree relatives who are affected.

Should you get a mastectomy if you have the BRCA gene?

Prophylactic mastectomy can reduce the chances of developing breast cancer in women at high risk of the disease: For women with the BRCA1 or BRCA2 mutation, prophylactic mastectomy reduces the risk of developing breast cancer by 90 to 95 percent.

Can 23andMe tell you who your parents are?

23andMe can give you a glimpse at your biological parents' DNA simply by showing you your own. Your parents each passed half of their own DNA onto you, so your genetic composition reflects theirs. ... *The 23andMe PGS test includes health predisposition and carrier status reports.

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