Breast Cancer Awareness | Genetic testing urged to help pinpoint risk –

Posted: October 7, 2020 at 8:54 pm

WINDBER Marlene Singer has been a familiar face in Johnstowns health care and philanthropy circles.

A former chairwoman of the local American Cancer Society Relay for Life event, Singer is founder and coordinator of the Johnstown Walk of Hope fundraiser to support cancer patients.

But even with her background in health care and cancer advocacy, no one had ever suggested Singer look at her own cancer risk until her gynecologist brought it up very recently.

All those years, it has never been discussed, Singer said at Joyce Murtha Breast Care Center in Windber. (Genetic testing) had never been offered before.

After a teleconference session with a genetic counselor in Pittsburgh, Singer had blood drawn and sent in for genetic testing.

I found out my risk is not zero, she said. I have a higher-than-normal long-term risk for breast cancer.

The Joyce Murtha centers genetic counselor, Kim Knapp, said Singers experience is not unusual. Family doctors and gynecologists arent providing information about family risk or suggesting genetic counseling, Knapp said.

It should be one of the first things you do for your patients, Knapp said.

My schedule should be so filled that I have a waiting list.


Genetic testing looks for inherited mutations in cells that increase the risk for cancer. The most well known are mutations of the BRCA1 and BRCA2 genes, named as shorthand for breast cancer.

Everyone has the genes, which normally function as tumor suppressors.

When they are mutated, they arent working, so tumor cells can grow uncontrolled.

The average lifetime risk of breast cancer for women is about 12%. For women who have a BRCA1 or BRCA2 mutation, the breast cancer risk is 50-85% by age 70. Their risk of developing ovarian cancer is increased, up to 40-60% by age 85, with BRCA1.

Both genes are also associated with increased risk for other cancers.

BRCA2 is linked to male breast cancer and pancreatic cancer and melanoma in both men and women, according to the American College of Obstetricians and Gynecologists.

Mutations in at least 10 other genes have been linked to increased risk of breast cancer, and there are more inherited gene mutations associated with other cancers.

Windber offers a genetic screening for a panel of almost 50 different mutations.

The new guidelines expand the pool of patients who are eligible for insurance coverage of the test, Knapp said.

Family history

At Indiana Regional Medical Center, breast surgeon and genetic counselor Dr. Dan Clark works with families to identify risk. Women who come in for routine mammograms are given questionnaires to help determine if they are eligible for counseling.

It is family history and personal health history, Clark said. There are certain childhood cancers that are related to breast cancer as an adult.

No more than 1 in 300 people carry the BRCA1 or BRCA2 mutations.

Those patients have two options to improve their odds: Surgically remove both breasts and the ovaries, or establish an enhanced screening regimen. The enhanced screening includes mammograms and magnetic resonance imaging studies alternating every six months.

While Dr. Lauren Deur at UPMC Altoona is a proponent of genetic counseling and screening, she warns that low genetic risk is not the same as low risk.

Theres a misconception that if you dont have a family history, you dont have to get a screening mammogram, Deur said.

The American Cancer Society estimates 5-10% of all cancers come from inherited gene mutations.

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Randy Griffith is a multimedia reporter for The Tribune-Democrat. He can be reached at 532-5057. Follow him on Twitter@PhotoGriffer57.

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Breast Cancer Awareness | Genetic testing urged to help pinpoint risk -

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