0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Viewpoint |

The Role of Testing for BRCA1 and BRCA2 Mutations in Cancer Prevention

Anne Marie McCarthy, ScM, PhD1; Katrina Armstrong, MD, MSCE1
[+] Author Affiliations
1Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts
JAMA Intern Med. 2014;174(7):1023-1024. doi:10.1001/jamainternmed.2014.1322.
Text Size: A A A
Published online

Extract

In May 2013, Angelina Jolie,1 the actress and director, announced in an op-ed in the New York Times that she carried a BRCA1 mutation and had had a preventive double mastectomy. Jolie’s message was striking—by identifying a mutation in a cancer susceptibility gene, one of the most famous actresses of our generation dramatically reduced her risk of dying from cancer.

Widely available for more than a decade, clinical testing for mutations in the breast and ovarian cancer genes, BRCA1 and BRCA2, remains the most prominent example of the use of human genetic variation to reduce disease risk. BRCA1 and BRCA2 are tumor suppressor genes involved in DNA repair, and therefore a defective copy of either gene sensitizes cells to mutations and cancer development. BRCA1/2 mutations substantially increase the risks of breast and ovarian cancer. The average US woman has a 12% lifetime risk of breast cancer, whereas BRCA1/2 mutation carriers have a 50% to 60% lifetime risk. The increase in ovarian cancer risk is even greater—from a 1.4% lifetime risk without the mutations to over 40% among BRCA1 carriers and nearly 20% among BRCA2 carriers.2

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

First Page Preview

View Large
First page PDF preview

First Page Preview

View Large
First page PDF preview

Figures

Tables

References

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Submit a Comment

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
PubMed Articles
Jobs
brightcove.createExperiences();