Cancer family

Members of the Shaffer-Peterson family gather on Saturday, April 23, 2016, to illustrate the scope of inherited cancer risk among the relatives. Those who have been tested for gene mutations include (from left) Danna Porada, Paige Porada, Gary Shaffer, Dave Vatavuk, Tom Vatavuk, Wayne Shaffer, Dan Vatavuk, Sherman Weible, John Vatavuk, Sharon Viscusi, Chuck Weible, Bill Weible, Allan Shaffer, Janet Shaffer, Linda Evanchock, Shirley Peterson and Marjorie Bittner.

The Shaffer-Peterson family reunion in 2011 included a serious note, along with the covered dishes, horseshoe pitching and photo albums. 

There was a short discussion about cancer. 

Thelma (Shaffer) Weible of Hooversville died from pancreatic cancer a few weeks before the reunion, and her children told their extended family that genetic counseling might be a good idea. 

Thelma had survived melanoma in her 50s.

“She was part of some study in Pittsburgh,” her son, Charles Weible of Harrisburg, said. “They were testing people and recommended everybody in my family get tested.”

Tests confirmed the Shaffers and Petersons have a family risk of both melanoma and pancreatic cancer because of a mutation of a gene that is responsible for producing several proteins in human cells. The proteins include p16 and p14 proteins that function as tumor suppressors by keeping cells from growing and dividing too rapidly or in an uncontrolled way.

The CDKN2A mutations are believed to account for a small percentage of melanoma and even fewer pancreatic cancers.

But those with the inherited mutation are estimated to have up to a 67 percent risk of developing melanoma. 

“Once we started talking about it, all of (Thelma’s) brothers and sisters had passed away of some kind of cancer,” said Bill Weible of Windber, Charles Weible’s brother.

Few relatives showed much concern for the risk of inherited cancer at that 2011 reunion, Bill Weible said.

“We brought it up, but it was our immediate family,” he said.

“It was, like, ‘Sorry for you guys.’ But they didn’t start paying attention.

“When it started happening to more of the family, they started paying attention.”

The Weibles’ first cousin, Allan Shaffer of Somerset, started paying attention when his 37-year-old daughter developed melanoma. 

“She had a mole on her calf,” Shaffer said. “It grew within three or four months.”

Melanoma is the most deadly form of skin cancer. But if it is detected early, it is highly curable, said Dr. Raymond Weiss, an oncologist and genetic counselor who works with Joyce Murtha Breast Care Center in Windber. 

Shaffer’s daughter had the cancerous mole removed, and he contacted Dr. Ibrahim Sbeitan at Conemaugh Memorial Medical Center in Johnstown about genetic testing. Sbeitan referred Shaffer to Weiss in Windber. 

Shaffer scheduled an appointment.

“I asked, ‘Can I take my family,’ ” Shaffer said. “He said, ‘Sure, bring as many as you want.’ ”

Almost a dozen relatives showed up for the session in Windber.

“That got everybody involved after that,” Shaffer said.

“Last summer at the family reunion, we had a long discussion about this,” Bill Weible said. 

It turns out, both branches of the Shaffer-Peterson clan are at risk for the mutation. 

“We got the double-whammy,” Shaffer said. His paternal grandparents were Clifford and Edna (Peterson) Shaffer.

Charles Shaffer tested positive for the mutation. He was diagnosed with pancreatic cancer in September 2013. After treatment, there was no sign of cancer until July 2014, when he found a melanoma and had it removed. A second melanoma was found in February.

Beth Holdsworth of Sidman is one of the only members of her immediate family who does not have the gene mutation. 

“When I was told I was negative, I was relieved, but I feel guilty because of my other family members who came back positive,” Holdsworth said. 

The family is somewhat remarkable because both branches have remained concentrated in the Cambria-Somerset county area for more than a century, Weiss said. 

Weiss looked into the extended clan and found some shocking numbers.

“I have found at least 17 in the family who have gotten melanoma,” Weiss said. Five had pancreatic cancer, and two had both cancers.

Those with at least two close family members diagnosed with melanoma may want to consider genetic counseling, Weiss said. Although there is no reliable preventive procedure – such as prophylactic mastectomy for those at high risk for breast cancer – there is an intensive screening protocol.

“They get a full body skin exam by a dermatologist every six months,” Weiss said. “The dermatologist will take photos of any mole that looks suspicious or doesn’t look quite normal.”

When the patient is examined again in six months, the mole is compared to the photos to look for changes. 

Skin cancer prevention advice for anyone is to avoid tanning and stay out of the sun as much as possible. That advice goes double for those with a family history of melanoma, Weiss said. 

Screening for pancreatic cancer is more complicated, but some cancer is caught early with an endoscopic ultrasound.

The test collects images from a tiny tube fed into the patient’s stomach. 

Several members of the Shaffer-Peterson family are having regular screenings with endoscopic ultrasound, Weiss said. 

Bill Weible gets the screening every year. He recommends genetic counseling for those who suspect a family link to disease, even if there are not reliable preventive measures.

“It’s for your own good,” he said. “Forewarned is forearmed.

“It pays to be your own advocate.”

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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