ArtsAutosBooksBusinessEducationEntertainmentFamilyFashionFoodGamesGenderHealthHolidaysHomeHubPagesPersonal FinancePetsPoliticsReligionSportsTechnologyTravel

BRCA1 the Gene and Protein

Updated on October 2, 2017
PaddyMac1984 profile image

Patrick is a registered Senior Biomedical Scientist, with expertise in Histology. But has a general interest in baking, movies and music

What is BRAC1

BRAC1 is gene associated with mutations which can cause malfunctions in cells resulting in cancer. It has a strong family history link and therefore any individual with a known tumor which is positive would have their family tested for the mutation also.

The mutation is not limited to women, men are not immune from the effects of the mutation. Men, even though lower numbers are recorded, can be susceptible to breast cancer. There is also evidence to suggest that BRAC1 mutation can lead to some lung cancers in men who smoke.

If found positive then some women have a difficult choice to make. It is very specific to the individual affected, they have had multiple children and a hysterectomy with associated complications may not phase them. Or they could be trying for a child and monitoring may be an option. There are numerous factors to consider and having a positive mutation in this gene does not necessarily mean cancer is a definite outcome, however the risk of developing cancer is higher if positive.

There is multiple literature available on the internet, and if you feel you are affected or in the process of undergoing tests, then your clinical team should be your first point of call for information and questions. There are also excellent references on charitable websites including Cancer Research.

This Hub is to provide some information on the science to the protein and the gene which are responsible in this mutation. The reason it is split into the gene and the protein is due to essentially genes provide a code for the body to make proteins, and the proteins perform the functions of the body.

BRAC1 Gene located on the chromosome 17
BRAC1 Gene located on the chromosome 17

The Gene

Breast cancer early onset 1 gene or BRCA1 was first discovered in 1994 and is located on the long arm of chromosome 17 at band 21 (see image). Chromosomes have a long aspect and a short aspect and due to their nature have banding's. DNA and chromosome sequencing have allowed scientists to locate specific genes and where they are in our genome and thus the specificity of above.

It codes for a 200 KDa (measurement of molecular mass) protein, which consists of 1863 amino acids ('building blocks of life' making up DNA). The gene contains 22 coding exons (segments of DNA which get translated to make the protein) and 2 non coding exons, with exon 11 coding for the majority of the protein (60% coding). The majority of these coding regions are organised into small exons normally lower than 100 base pairs, with exon 11 being organised into much larger numbers of base pairs.

The BRAC1 gene belongs to a class of genes known as tumour suppressors. These are responsible for maintaining genomic integrity and preventing uncontrolled cellular proliferation, in essence the development of cancer. Many different tissues express this gene including both testis and thymus, but its exact role in the cell is not fully understood. BRCA1 protein is thought to be directly involved in the repair of DNA damage on exposure to certain elements such as Ultra violet (UV) light or strong chemical components such as hydroxyurea.

Genetics information

The Protein

The structure of the protein BRCA1 is unknown having few identifiable features. Located at the N terminal region is a ring domain, these domains have been associated with many protein to protein interactions. Located at the C-terminal end of the protein are two 95 residue BRCT (BRCA1 C-terminal) domains.

These domains are also found in other proteins that are involved in DNA repair and cell cycle regulation. These proteins essentially control the cell as it replicates and develops. These two BRCT domains have a sufficient mapped sequence identical to the DNA repair protein XRCC1 BRCT domain. The crystal structure of this domain from this protein reveals a central, four stranded β-sheet surrounded by 3 α-helices. Contacts which mediate asymmetric dimerisation of the two BRCT domains of XRCC1 protein are predicted to involve residues of one of these α-helices located around the 4 β-pleated sheets. Mutations associated with mutations in BRCA1 are predicted to disrupt the stability or folding of the BRCT domain, this would be consistent with the effects of protein function.


    0 of 8192 characters used
    Post Comment

    No comments yet.


    This website uses cookies

    As a user in the EEA, your approval is needed on a few things. To provide a better website experience, uses cookies (and other similar technologies) and may collect, process, and share personal data. Please choose which areas of our service you consent to our doing so.

    For more information on managing or withdrawing consents and how we handle data, visit our Privacy Policy at:

    Show Details
    HubPages Device IDThis is used to identify particular browsers or devices when the access the service, and is used for security reasons.
    LoginThis is necessary to sign in to the HubPages Service.
    Google RecaptchaThis is used to prevent bots and spam. (Privacy Policy)
    AkismetThis is used to detect comment spam. (Privacy Policy)
    HubPages Google AnalyticsThis is used to provide data on traffic to our website, all personally identifyable data is anonymized. (Privacy Policy)
    HubPages Traffic PixelThis is used to collect data on traffic to articles and other pages on our site. Unless you are signed in to a HubPages account, all personally identifiable information is anonymized.
    Amazon Web ServicesThis is a cloud services platform that we used to host our service. (Privacy Policy)
    CloudflareThis is a cloud CDN service that we use to efficiently deliver files required for our service to operate such as javascript, cascading style sheets, images, and videos. (Privacy Policy)
    Google Hosted LibrariesJavascript software libraries such as jQuery are loaded at endpoints on the or domains, for performance and efficiency reasons. (Privacy Policy)
    Google Custom SearchThis is feature allows you to search the site. (Privacy Policy)
    Google MapsSome articles have Google Maps embedded in them. (Privacy Policy)
    Google ChartsThis is used to display charts and graphs on articles and the author center. (Privacy Policy)
    Google AdSense Host APIThis service allows you to sign up for or associate a Google AdSense account with HubPages, so that you can earn money from ads on your articles. No data is shared unless you engage with this feature. (Privacy Policy)
    Google YouTubeSome articles have YouTube videos embedded in them. (Privacy Policy)
    VimeoSome articles have Vimeo videos embedded in them. (Privacy Policy)
    PaypalThis is used for a registered author who enrolls in the HubPages Earnings program and requests to be paid via PayPal. No data is shared with Paypal unless you engage with this feature. (Privacy Policy)
    Facebook LoginYou can use this to streamline signing up for, or signing in to your Hubpages account. No data is shared with Facebook unless you engage with this feature. (Privacy Policy)
    MavenThis supports the Maven widget and search functionality. (Privacy Policy)
    Google AdSenseThis is an ad network. (Privacy Policy)
    Google DoubleClickGoogle provides ad serving technology and runs an ad network. (Privacy Policy)
    Index ExchangeThis is an ad network. (Privacy Policy)
    SovrnThis is an ad network. (Privacy Policy)
    Facebook AdsThis is an ad network. (Privacy Policy)
    Amazon Unified Ad MarketplaceThis is an ad network. (Privacy Policy)
    AppNexusThis is an ad network. (Privacy Policy)
    OpenxThis is an ad network. (Privacy Policy)
    Rubicon ProjectThis is an ad network. (Privacy Policy)
    TripleLiftThis is an ad network. (Privacy Policy)
    Say MediaWe partner with Say Media to deliver ad campaigns on our sites. (Privacy Policy)
    Remarketing PixelsWe may use remarketing pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to advertise the HubPages Service to people that have visited our sites.
    Conversion Tracking PixelsWe may use conversion tracking pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to identify when an advertisement has successfully resulted in the desired action, such as signing up for the HubPages Service or publishing an article on the HubPages Service.
    Author Google AnalyticsThis is used to provide traffic data and reports to the authors of articles on the HubPages Service. (Privacy Policy)
    ComscoreComScore is a media measurement and analytics company providing marketing data and analytics to enterprises, media and advertising agencies, and publishers. Non-consent will result in ComScore only processing obfuscated personal data. (Privacy Policy)
    Amazon Tracking PixelSome articles display amazon products as part of the Amazon Affiliate program, this pixel provides traffic statistics for those products (Privacy Policy)