Testing for hereditary breast cancer? Toolkit helps families talk, cope, decide what to do

Actress Angelina Jolie made headlines in May when she revealed she underwent a preventive double mastectomy to reduce her risk of cancer.

According to the New York Times, Jolie carried a genetic mutation in the BRCA1 gene, which elevated her chances of breast and ovarian cancer to 87 percent and 50 percent, respectively. She also has opted to have her ovaries removed.

Discussing the genetic mutation in the family can be very difficult. To that end, Maria Katapodi, associate professor at the University of Michigan School of Nursing, developed the Family Gene Toolkit to help families communicate about the mutation, elevated and the importance of genetic testing.

By involving entire families, the kit aims to take the burden of disclosure and explaining complex genetic information away from the mutation carrier, Katapodi said. The hope is that these discussions occur soon after a mutation is detected in one family member and before other members develop cancer.

"Our goal is to help families have open communication, cope and make better decisions when someone learns they are a carrier of a cancer ," she said.

Jolie's story renewed the debate over genetic testing and pre-emptive surgery when a BRCA1 or BRCA2 mutation is present. Several of her family members, including her mother and aunt, died of ovarian or . Jolie's aunt, who carried the mutation but didn't know it, died just weeks after Jolie's announcement.

"Cancers caused by these genes may be more aggressive and affect younger people, so they take away more years of life, Katapodi said. "If you know you have a high chance of getting cancer, you can consider issues like fertility and family planning, career and life goals before you make a decision on treatment.

"You can really look at the big picture. You're not just someone with a genetic mutation. You're a person with feelings, a woman, a mother, you have aspirations for a career."

Katapodi's toolkit includes two live Internet counseling sessions with a genetic counselor and an oncology nurse. The sessions cover basic information about genes and genetic testing, as well as coping mechanisms and communication among family members. The program also includes follow-up phone calls to answer any outstanding questions.

More information: Family Gene Toolkit: sites.google.com/a/umich.edu/familygenetoolkit

add to favorites email to friend print save as pdf

Related Stories

What is BRCA1?

May 15, 2013

Actress Angelina Jolie has today written an op-ed in the New York Times explaining that she has opted to have a double mastectomy because she carries the hereditary BRCA1 gene, which she says increases her risk o ...

Researchers uncover genetic cause of childhood leukemia

Sep 08, 2013

For the first time, a genetic link specific to risk of childhood leukemia has been identified, according to a team of researchers from Memorial Sloan-Kettering Cancer Center, St. Jude Children's Research Hospital, University ...

Recommended for you

The fine line between breast cancer and normal tissues

3 hours ago

Up to 40 percent of patients undergoing breast cancer surgery require additional operations because surgeons may fail to remove all the cancerous tissue in the initial operation. However, researchers at Brigham ...

Pancreatic cancer risk not higher with diabetes Rx DPP-4i

4 hours ago

(HealthDay)—There is no increased short-term pancreatic cancer risk with dipeptidyl-peptidase-4 inhibitors (DPP-4i) compared to sulfonylureas (SU) and thiazolidinediones (TZD) for glycemic control, according ...

Good bowel cleansing is key for high-quality colonoscopy

6 hours ago

The success of a colonoscopy is closely linked to good bowel preparation, with poor bowel prep often resulting in missed precancerous lesions, according to new consensus guidelines released by the U.S. Multi-Society Task ...

New rules for anticancer vaccines

8 hours ago

Scientists have found a way to find the proverbial needle in the cancer antigen haystack, according to a report published in The Journal of Experimental Medicine.

User comments