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Tuesday, 12 February 2013

Know how Knowing Your BRCA Status May Help Prevent Cancer

Posted on 03:00 by Unknown
February is Cancer Prevention Awareness Month. Here at the Abramson Cancer Center, we are committed to providing outstanding comprehensive cancer care and cancer information including ways to prevent cancer. Further, cancer researchers at Penn are at the forefront of learning new ways to prevent and detect cancer.

In this article, we discuss breast cancer, mutation of genes, specifically, the BRCA mutation, and how knowing your own BRCA status could impact the health care decisions you make in the future. 

BRCA-Gene-Mutation

BRCA1 and BRCA2 stand for breast cancer 1 and breast cancer 2. The BRCA1 and BRCA2 genes are present in all individuals. Everyone has two copies of each of these genes - one from each parent.

Mutations of genes are like spelling errors in the genetic code of a gene. Those who have a gene mutation in either the BRCA1 or BRCA 2 gene are at higher than average risk for developing certain cancers.

The BRCA1 and BRCA2 genes are responsible for the repair of certain types of DNA errors that may occur each time a human cell makes a copy of itself. Without a gene mutation, functional BRCA1 and BRCA2 genes help ensure the stability of cell's genetic material, or DNA, and help prevent uncontrolled cell growth. BRCA1 and BRCA2 can be genes causing cancer if they have a gene mutation.

Having mutations of genes, or an inherited gene mutation in BRCA1 or BRCA2 does not mean a person is guaranteed to develop cancer, but the chances are significantly higher than for someone who does not have a gene mutation.

The lifetime risk of developing certain types of cancer is greatly increased for women and men who inherit a BRCA1 or BRCA2 mutation.

Women and men who test positive for a BRCA gene mutation may refer to themselves as “previvors.”

A previvor is a survivor of a predisposition to cancer. Previvors have unique needs from people with cancer such as active surveillance and screening tests and often need to make treatment decisions based on their risk for inherited cancer.

Increasingly, women at high risk for breast cancer are choosing prophylactic mastectomy to greatly reduce their chance of getting breast cancer. While prophylactic mastectomy stories often make the front page, many women at increased risk for breast cancer choose other methods of managing their risk like enhanced breast cancer screening or risk-reducing medications. Jessica Long, CGC, a genetic counselor at Penn’s Basser Research Center for BRCA explains that “this is generally a very personal decision for each woman, even within the same family.”

Men and women with a BRCA1 or BRCA2 mutation may:
  • Choose to start screening for breast cancer at age 25
  • Receive specialized breast screening that includes regular mammography and breast MRI
  • Participate in screening studies that offer cutting-edge technologies
  • Be screened for ovarian cancer
  • May choose to have ovaries or healthy breast tissue removed to reduce risk of developing cancer
  • Also be candidates for other specialized types of enhanced screening
  • Receive personalized medical recommendations for overall health

Mutations of Genes, and Cancer Research at Penn

The Basser Research Center for BRCA supports research on the BRCA1 and BRCA2 genes, harmful forms of which are linked to greatly increased risks of developing breast and ovarian cancer. The Center is named in honor of Mindy Gray’s sister, Faith Basser, who died of ovarian cancer at age 44.

The Basser Research Center was established with a $25 million gift to the University of Pennsylvania from alumni Mindy and Jon Gray.

Emphasizing outreach, prevention, early detection, treatment and survivorship, the Basser Research Center will contribute to all stages of research and clinical care relevant to BRCA-related cancers.

Learn more about the Basser Research Center.
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