Entries in BRCA (3)


First Prostate Cancer Gene Mutation Identified

iStockphoto/Thinkstock(ANN ARBOR, Mich.) -- Simple blood tests offer telling signs of someone’s genetic risk for developing hereditary diseases such as breast cancer. But researchers say they have now identified the first mutation associated with a higher risk of developing prostate cancer.

Researchers analyzed more than 200 genes from 94 men with prostate cancer along with their families. Men within four of the families were found to have a mutation of the gene protein known as HOXB13.

All 18 men within the four families who had prostate cancer also carried the HOXB13 gene mutation, according to the findings which were published Wednesday in the New England Journal of Medicine.

Researchers then compared gene results from nearly 7,000 European men, and found that those with prostate cancer had about 20 times the odds of carrying the mutation compared to men without prostate cancer.

“We found that the mutation was significantly more common in men with a family history and early diagnosis compared with men diagnosed later, after age 55, without a family,” Dr. Kathleen Cooney, professor of internal medicine and urology at the University of Michigan Medical School and study author, said in a public statement.

More than 2 million men are living with prostate cancer, according to the American Cancer Society. Cooney said only a small fraction of men might have this genetic mutation.

HOXB13 gene mutation has previously been linked to progressions in breast and ovarian cancer.  

Many experts say these new findings might turn into the equivalent of the BRCA gene mutation, which can identify a woman’s genetic risk for breast cancer.

But until the findings are replicated in more men with various backgrounds, it’s still too early to tell whether a simple blood test will be able to accurately tell a man’s risk for the disease.

Copyright 2012 ABC News Radio


Study Reassuring for Women Whose Families Have BRCA Mutation

Photodisc/Thinkstock(STANFORD, Calif.) -- Women whose female relatives have a notorious breast cancer gene but who do not have the gene themselves may be able to breathe a slight sigh of relief.

New research that refutes previous findings suggests that women who do not carry their family's BRCA genetic mutation are at no higher risk of getting breast cancer than relatives of people with other types of breast cancer.

The findings of the study, which examined more than 3,000 families, countered a 2007 study that suggested women who tested negative for the BRCA mutation -- but had a first-degree family member who carried the gene -- had a two- to five-fold increased risk of developing breast cancer.

These women still are at greater risk for the disease than women who do not have a family history of breast cancer. But the study's findings, published in the Journal of Clinical Oncology, found that women are not at an even greater risk solely because of their BRCA family history.

"This is a reassuring result," said Dr. Allison Kurian, first author of the study and assistant professor of oncology at Stanford University Medical Center. "We found women who tested negative for BRCA mutation do not have a greatly elevated risk of breast cancer."

"This isn't to say that women may not have other reasons for increased risk due to other factors," said Kurian. "Cases should be managed in an individual way."

Breast cancer is the most common cancer among women in the United States. More than one in eight women will develop the disease in their lifetimes, according to While only about 10 percent of breast cancer diagnoses stem from the genetic mutation, women with the BRCA genetic mutation have a 45- to 65-percent chance of getting breast cancer, and those increased odds often result in more frequent mammograms and preventive mastectomies.

The BRCA-1 and BRCA-2 genetic mutations were first discovered in 1994. At the time, researchers believed that relatives of a person who carried the BRCA gene were not at greater risk than any other family member of a person with other kinds of breast cancer. The 2007 study countered that initial belief, but these newly published results bolster the original understanding of the genetic mutation.

The study compared noncarriers with a family BRCA history with noncarriers who have other types of breast cancer in their families.

Kurian said the 2007 study may have found conflicting results because researchers compared the BRCA family members with the general population.

Cancer specialists say patients can now feel some relief and return to normal screening patterns. It's important to educate high-risk patients on appropriate prevention and treatment options, they said.

Copyright 2011 ABC News Radio


Study: Women Develop BRCA-Related Cancer Earlier than Their Moms

Comstock/Thinkstock(HOUSTON) -- Jessica Denton was 34 years old and pregnant with her first child when she found a lump in her breast. She said her doctor said that it was nothing, that everything grows during pregnancy.

After the lump increased in size and became abnormally shaped, she again had it checked out.

"I ignored it for about five months," she told ABC News. "It grew so fast and it just didn't feel right. I went to my [obstetrician]....That's when we got the diagnosis."

Denton, who had not yet had her first baseline mammogram in 2008 when she first found the lump, was diagnosed with breast cancer and tested positive for the BRCA-2 gene. After her diagnosis, she found out that she had inherited the gene from her great-aunt on her father's side.

Her Aunt Pearl had gotten breast cancer in her late 60s or 70s and had tested positive for the BRCA gene. Though her aunt had informed Denton's parents 12 years ago that she was BRCA-positive, Denton said they did not share the information with her.

"It just didn't send up any red flags in them," she said. "And it should have."

Denton's belief is backed up by a study by researchers at the University of Texas MD Anderson Cancer Center in Houston published online Monday in the journal Cancer, which found that women with cancer related to the BRCA gene developed the disease years younger than their relatives in the previous generation.

"Specifically in women with BRCA-1 or -2 mutations, we were looking to see if the daughters were getting the disease earlier than their moms or aunts," said Dr. Jennifer Litton, a breast medical oncologist at the University of Texas MD Anderson Cancer Center in Houston, whose team conducted the study.

Of the 132 women in the study who had breast cancer and BRCA gene mutations, 106 had a family member in the previous generation who had been diagnosed with either BRCA-related breast or ovarian cancer. Researchers also found that the average age of cancer diagnosis went from 48 in the older relative to 42 in the younger generation.

"I think this validates a lot of the guidelines out there for us to start looking at least five to 10 years earlier than the youngest diagnosis in their family," Litton said.

In Denton's last trimester, she underwent chemotherapy. After her daughter was born, the new mother underwent a double mastectomy, aggressive chemotherapy and radiation.

"We went through the treatment, step by step, and it was not easy and it's not fun, but we made it through and I feel very lucky," said Denton, who is now cancer-free and pregnant with twins.

Researchers at the University of Texas said the findings also gave weight to so-called "anticipation" in breast and ovarian cancer, in which later generations had earlier onset and more severe disease than their ancestors.

It's still unclear why the younger generation develops cancer earlier. For now, Litton said she wanted to see the study done with larger groups of women to determine whether the reason is environmental or due to better testing.

It is recommended that women with the gene mutation start breast cancer screening at the age of 25.

"For women with a known BRCA-1 and -2 mutation, we do know that women get cancers earlier than the rest of the population," she said. "Doing appropriate screenings, starting the screening on time can find cancers at earlier stages."

Copyright 2011 ABC News Radio

ABC News Radio