What is BRIT1 gene mutation?
What is BRIT1 gene mutation?
BRIT1, a novel gene that we identified through an enhanced retroviral mutation screen as a repressor of human telomerase (hTERT) function, is implicated in cellular immortalization. Our data indicates that BRIT1 exhibits additional functions acting as a regulator of both the intra-S and G2/M checkpoints.
What gene is the cancer gene?
The most commonly mutated gene in people with cancer is p53 or TP53. More than 50% of cancers involve a missing or damaged p53 gene. Most p53 gene mutations are acquired. Germline p53 mutations are rare, but patients who carry them are at a higher risk of developing many different types of cancer.
Where is BRIT1?
MCPH1, also known as BRIT1, has recently been identified as a novel key regulatory gene of the DNA damage response pathway. MCPH1 is located on human chromosome 8p23. 1, where human cancers frequently show loss of heterozygosity.
Does everyone have the BRCA gene?
Everyone has two copies of the BRCA1 and BRCA2 genes, one copy inherited from their mother and one from their father. Even if a person inherits a BRCA1 or BRCA2 mutation from one parent, they still have the normal copy of the BRCA1 or BRCA2 gene from the other parent.
Where is the BRIP1 gene located?
This gene is located on chromosome 17. BRIP1 works with BRCA1 to repair DNA damage. Although the two genes work together, the effects of a mutation are different; people with a BRIP1 mutation do not have the same cancer risk as people with a BRCA1 mutation. Register for the FORCE Message Boards to connect with others who share your situation.
What is the difference between the BRIP1 and BRCA1 mutations?
BRIP1 works with BRCA1 to repair DNA damage. Although the two genes work together, the effects of a mutation are different; people with a BRIP1 mutation do not have the same cancer risk as people with a BRCA1 mutation. If you are a person with an BRIP1 mutation, you can find peer support through the following resources:
Can a woman inherit a BRIP1 gene mutation?
General information for people with inherited BRIP1 mutations Both men and women can carry a mutation in the BRIP1 gene. Women who inherit a BRIP1 mutation have an increased risk of ovarian cancer. Research on whether an inherited BRIP1 mutation increases the risk for other cancers in both men and women is ongoing.
Are there any cancer screening guidelines for people with a BRIP1 mutation?
There are guidelines for screening and prevention for certain cancers in people with a BRIP1 mutation. Clinical trials may also be available for people who test positive for a BRIP1 mutation. See our Risk Management section for more information about screening and prevention options in people with this mutation.
