About Us

Return to Genetic Risk Assessment Program Overview

More on Genetic Risk Assessment Program

Surgical Services

Return to Genetic Risk Assessment Program Overview

More on Genetic Risk Assessment Program

Research

Return to Genetic Risk Assessment Program Overview

More on Genetic Risk Assessment Program

Surgery Training and Education

Return to Genetic Risk Assessment Program Overview

More on Genetic Risk Assessment Program

Breast Surgery

Genetic Risk Assessment Program

Back to the Breast Center
Home Page
For appointments and information,
please call (212) 821-0833


"It has been more than a decade since the genetic mutations for breast cancer were discovered. Even with the explosion in genetics, there's no other common disease entity where this information is as strong in terms of predicting disease occurrence and leading to measures that can be taken to reduce the risk."
- Peter I. Pressman, MD, Clinical Professor of Surgery

Dr. Pressman
Approximately 7 to 10 percent of breast and ovarian cancers occur because an inherited gene mutation is transmitted from parent to child. "If a mutation is present, the patient has an 85 percent chance of developing breast cancer," says Dr. Pressman. "Or if she already has a diagnosis of breast cancer and is tested, the information is important because it can motivate the type of surgical and medical care she decides to pursue."

Cover
If you have a family history of breast or ovarian cancer, genetic counseling and testing may be appropriate. Individuals with a hereditary susceptibility to cancer can make informed decisions about how to reduce their risks.

Initial Phone Conversation

At the Weill Cornell Breast Center, patients will often call for a consult with the Genetic Risk Assessment Program at the time of a breast cancer diagnosis, particularly if they have a family member who has had breast or ovarian cancer.

"One of the most important times to call our program is when you are first diagnosed with breast cancer because if you test positive for a BRCA mutation, you might change your surgery options," says Ann Carlson, Genetic Counselor. "For some women, this is an important piece of information in the decision-making process. People also tend to call us when a new breast cancer or ovarian cancer has been diagnosed in their family, which tips their level of concern to the point where they're very concerned. It may be the second or third such diagnosis in the family."

Calls that come into the Genetic Risk Assessment Program are answered directly by Ms. Carlson. If the patient is newly diagnosed, she can often schedule an on-site consultation for the same day, especially if a decision about surgical treatment is pending. The initial phone conversation may be 20 to 30 minutes during which time Ms. Carlson determines if genetic testing may be indicated and answers any questions.

"A call is not a commitment to further pursue genetic counseling or testing -- it's an exploratory discussion to help guide the caller," says Ms. Carlson.

First Appointment

Once a patient decides to have testing, an appointment is scheduled. A typical session starts with outlining the patient's family tree, emphasizing who in the family has had cancer, what type of cancer, and the age at time of diagnosis. "Using the pedigree format rather than a straight list enables us to detect patterns of cancer in the family," add Ms. Carlson.

The discussion also includes an explanation of BRCA genes and what it means to test positive for a BRCA mutation. It is important to note that everyone has the BRCA genes (BRCA-1 and BRCA-2), but it is the mutation of the gene(s) that is predictive for breast cancer.

"I always tell a patient what risks they would have if they carry a BRCA mutation, what options they have in terms of managing that risk, and the implications for other family members if they test positive," explains Ms. Carlson.

Genetic Testing

Testing for the BRCA mutation is done either with a blood test or a saliva test - whichever the patient prefers. With the saliva test, a patient cannot eat, drink -- except for water, or chew gum for an hour before the test. A blood or saliva sample is collected at the end of the first appointment. Results of testing are available within two weeks.

If a patient tests negative for BRCA 1 and BRCA 2, but has a high risk for developing cancer due to other factors such as family history of cancer, there are now available 14 other genes related to breast cancer for which they can be screened. Patients will be advised whether they should consider this additional testing.

Genetic Counseling

If the patient tests positive for a BRCA mutation, an appointment is scheduled with breast cancer specialist Peter Pressman, MD, who discusses what testing positive means for that particular patient, providing detailed information about her risk for developing cancer and options for lowering that risk. Patients who have been diagnosed with breast cancer and test positive for a BRCA mutation may consider proceeding with a bilateral mastectomy rather than a lumpectomy or removal of the affected breast.

For those who test positive but do not have a diagnosis of breast cancer, Dr. Pressman will advise on increased screening, which makes it possible to make the earliest diagnosis should breast cancer develop. They may also recommend certain medications to considerably lower the risk of ovarian cancer, or, recommend removing the ovaries.

With the Genetic Information Nondiscrimination Act of 2008 (GINA), which prohibits discrimination in health coverage and employment based on genetic information, patients who test positive do not need to worry about discrimination by health insurers or their employers.

For More Information

For more information about the Weill Cornell Breast Center's Genetic Risk Assessment Program, please call (212) 821-0833.



Contact

Breast Surgery
Directions
(212) 821-0833
  • Bookmark
  • Print


Top of page

by Last Name
    by Condition or Specialty
      Surgical Services
        by Last Name
        by Condition or Specialty
        Surgical Services
        View Full Profile

        Mini-Profile

        Phone: (212) 746-6006
        Fax: (212) 746-8753
        Address: 525 E. 68th Street
        Starr 8
        New York, NY 10065
        Clinical Expertise