Skip to main content

BRCA1 gene


What is the normal function of the BRCA1 gene?

The BRCA1 gene belongs to a class of genes known as tumor suppressor genes. Like many other tumor suppressors, the protein produced from the BRCA1 gene helps prevent cells from growing and dividing too rapidly or in an uncontrolled way.
The BRCA1 gene provides instructions for making a protein that is directly involved in repairing damaged DNA. In the nucleus of many types of normal cells, the BRCA1 protein interacts with several other proteins, including the proteins produced from the RAD51 and BARD1 genes, to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. By helping repair DNA, BRCA1 plays a role in maintaining the stability of a cell's genetic information.
Research suggests that the BRCA1 protein also regulates the activity of other genes and plays a critical role in embryonic development. To carry out these functions, the BRCA1 protein interacts with many other proteins, including other tumor suppressors and proteins that regulate cell division.

Does the BRCA1 gene share characteristics with other genes?

The BRCA1 gene belongs to a family of genes called RNF (RING-type zinc fingers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other.

How are changes in the BRCA1 gene related to health conditions?

breast cancer - increased risk from variations of the BRCA1 gene

Researchers have identified more than 1,000 mutations in the BRCA1 gene, many of which are associated with an increased risk of cancer (particularly breast cancer in women). Most of these mutations lead to the production of an abnormally short version of the BRCA1 protein, or prevent any protein from being made from one copy of the gene. Other BRCA1 mutations change single protein building blocks (amino acids) in the protein or delete large segments of DNA from the BRCA1 gene. Researchers believe that a defective or missing BRCA1 protein is unable to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can allow cells to grow and divide uncontrollably and form a tumor.
other cancers - increased risk from variations of the BRCA1 gene
In addition to female breast cancer, mutations in the BRCA1 gene also increase the risk of several other types of cancer including fallopian tube cancer, male breast cancer, and pancreatic cancer. Many of these mutations change one of the amino acids used to make the BRCA1 protein, resulting in a protein that cannot perform its normal DNA repair function.

Labels:

Comments

Post a Comment

Popular posts from this blog

"Hard nipples" - areola or nipple skin

Someone once wrote"... when i get really cold, or get goosebumbs all over my body, the whole things really scrunch up, like, my entire areola scrunches itself up into a wrinkled little mound. it looks really weird and ugly, and i haven't ever seen other people's breasts do it. what is wrong with my areola/nipples??" The answer: Well nothing is wrong. This is what my areola does too. It's a normal reaction to the coldness or to irritation / stimulation. The little muscles in the areola do a similar goosebump thing as your other skin can do. People often call this phenomenon "hard nipples". Also note that skin on areola has less feeling or sensation to it than other areas of your body. If the areola was very sensitive, then breastfeeding would probably be quite uncomfortable because the baby pulls and tugs it! The nipples are sensitive but the sensitivity changes with hormonal changes, such as occur at mestrual cycle or pregnancy. Also this v...
8 comments
Read more

Monumental cleavage alert! Did Natalie Portman get a boob job?

Black Swan Oscar winner Natalie Portman has sparked feverish debate about whether or not she's had a boob job, after she appeared on camera at an American football game looking bustier than before. The 31-year-old, who gave birth to son Aleph in June 2011, was watching the game in Austin, Texas during a break from shooting the as-yet-untitled new Terrence Malick film. With co-star Michael Fassbender by her side, a newly blonde Natalie was spotted by the cameras during the ABC broadcast. While it could very well be a push-up bra, or a consequence of breast-feeding her bub, Twitter fans immediately speculated about the star's potentially enhanced assets. "Natalie Portman @ the Texas-Baylor game ... boob job? Looks like it!" one user wrote. "Wait a second, did Natalie Portman get a boob job? Is she pregnant? On the sidelines of Texas game and #wow," another tweeted. Comments on the YouTube clip ran along the same lines, albeit many of them ...
Post a Comment
Read more

Ground breaking cancer Carctol Capsule in India with Dr.Vipin Tiwari

Sharing is caring and also very important to keep up with what’s happening in the world. Cancer news we see everyday! This is something I am very very excited about : Changing the future and also saving lives. Sound too good to be true well it’s not the research that has gone into this product is brilliant. Please check out Dr.Vipin Tiwari he is working in India. I was really happy he contacted me to share this product. So I want to share it also with you all. The mission: MISSION "Our mission is to offer products as well as services of the highest professional standards in order to make the whole world Cancer Free." The people at Dr. Nandlal Tiwari Pharmaceuticals Pvt. Ltd. are focused on researching the power of ayurveda, bring up natural medicines & therapies and spread it all over the world for the benfit of mankind. We work hard to bring smiles on hopeless patients of Cancer. With successful records in past and dedication of our employees we are con...
2 comments
Read more