TEANECK, New Jersey — Several years ago, a new patient booked an appointment with Dr. Jonathan Herman in his Lake Success, NY office. Herman, a longtime OB/GYN, took careful notes while taking her family history and, during the subsequent examination, discovered a lump in her right breast. A biopsy confirmed his worst suspicions: It was cancer.
The tragedy of this case, recalled Herman, was that it didn’t have to be so. The woman revealed that her mother had breast cancer and her maternal grandmother had died from ovarian cancer. The woman carried mutations on the BRCA gene associated with breast and ovarian cancers.
“That history didn’t happen yesterday,” said Herman, who tests for and treats those with the gene. “Someone should have told her about BRCA mutations and had her tested years ago.”
Herman dreads these kinds of stories. Unfortunately, they are all too abundant, which is why he works tirelessly to educate people about the need to get tested for the BRCA gene, which increases the risk for cancers.
Long before Angelina Jolie’s headline-grabbing revelation last year of her preventative double mastectomy after testing positive for BRCA1, Herman was fighting to raise awareness of the issue.
He regularly lectures all over the US about the need for people to learn from their family histories. He has appeared on the hit TV show, “The Doctors,” to plead the case, and filmed informative public service announcement commercials which have been aired on TV from coast to coast – even between innings during Major League Baseball games.
“Letters to Doctors,” (Rad51 Publishing 2013) which he recently co-authored with Teri Smieja, a BRCA1 positive mother and writer, was a natural outgrowth of his passion for the topic.
The book is a compilation of stories about cancer victims, survivors and their offspring as they faced life-altering decisions. Their courageous journeys offer potentially life saving information.
Herman admits he never sought to write a book. But always a healer, his encounter over the years with a myriad of sad tales motivated him to want to remedy all the wrongs. He compiled much of what he gleaned through his years of treating BRCA positive patients into his book.
“It was so disappointing to me that there’s such ignorance about this,” he said, adding that Israel is light years ahead of the U.S. in terms of testing patients.
So many women have a history of breast and ovarian cancer in their families but their doctor never even mentioned the possibility of being tested, Herman laments. Many of them ended up losing their breasts, ovaries and lives to breast and ovarian cancer.
According to the National Cancer Institute, specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer too.
Approximately 5 to 10 percent of all breast cancers are hereditary, handed down from generation to generation. Together, BRCA1 and BRCA2 mutations account for about 80 to 85 percent of these hereditary breast cancers. In addition, mutations in BRCA1 and BRCA2 also account for around 10 percent of all ovarian cancers. Breast cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than sporadic breast cancers.
A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father, according to the National Cancer Institute. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance of inheriting the abnormal mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal.
There is a greater risk for carrying this gene in the Ashkenazi Jewish community: While, between one in 400 and one in 800 people in the general American population have a BRCA1/2 mutation, the ratio is considerably higher among Ashkenazi Jewish men and women, with about one in 40 carrying the mutation.
Testing for the BRCA gene involves a blood or saliva test that is mostly covered by insurance when criteria are met. The results take approximately one week to come back. Although it sounds simple, not all doctors encourage their patients to consider the test, even if there’s a strong likelihood of them carrying the gene.
Dr. Steven Narod, a Professor of the Department of Medicine at the University of Toronto and a senior scientist at the Women’s College Research Institute who is arguably the leading authority on the BRCA gene, told The Times of Israel he believes all Jewish women should be offered testing and not require the doctors endorsement.
“Genetic counselors or health care insurers could deny you the test in the current situation. If the doctor has to put in a recommendation with the insurance company, it may be a problem. Hospital administrators will ask if they will profit from it. I don’t believe it should be necessary to go a doctor or counsellor in the first instance.
“Genetic counsellors should focus their attention on women with a positive test. Every Jewish woman should be able to go to a lab and get tested for the gene if they wish. We can run that test in my lab for less than $100 and we offer it to all Jewish women in Ontario,” said Narod.
“Why is this not a world policy? I am surprised at the reluctance around the world to follow up on our research in this area. There’s no reason not to make the test available to everyone,” said Narod.
When Smieja wanted to be tested for the gene five years ago, her own gynecologist did not know how to conduct the test since nobody had ever asked him about it before. It took 52 days and one improperly conducted test before she obtained her results.
When she did, her worst fears were confirmed: She was BRCA positive and carried the gene mutation. Smieja was only 32 at the time and had just given birth to her first child. She wasn’t prepared to face a terrible disease.
“I felt like a zombie. My eyes filled with tears while I contemplated with this meant to me and my family,” she recalled. She wondered, “Was I going to die an early death?”
She eventually realized that having a predisposition to cancer does not amount to a death sentence. Those who carry the gene have two main options: Increased surveillance or risk reducing surgery. She chose the latter.
“I beat ovarian cancer before it could get to me,” she said, explaining that she opted for a bilateral salpingo-oophorectomy, in which the ovaries and fallopian tubes are removed.
‘I beat ovarian cancer before it could get to me’
Other women depicted in the book share feelings of relief when they discover they carry the gene because it gave them the power to do something to prevent the disease from overtaking them. While some of them were proactive and had surgery to remove their breasts and/or ovaries to prevent cancer, others decided to engage in surveillance – frequent mammograms and breast MRIs — to make sure that they remain cancer free.
The authors succeed in bringing home the message that it’s essential for everyone to be aware of their family background and to look into the prospect of being tested when it is warranted.
If there is any criticism to be made of the book, it is that it all but ignores the plight of men who may be carrying the gene. Dave Bushman, an outreach coordinator for FORCE (Facing Our Risk of Cancer Empowered) said the question of whether to be tested for the BRCA gene mutation is best left to a genetic counselor.
“Certain specific family history patterns are associated with an increased risk for deleterious mutation in the BRCA1 or BRCA2 gene,” he said. “Both maternal and paternal family histories are important.”
Men who suspect they might have the BRCA gene mutation should also be tested because they too can get various cancers, including breast and prostate cancer, he advised.
“Men need to be tested especially if they have children. If they are BRCA negative their children will be BRCA negative assuming the other parent is also BRCA negative. If they are BRCA positive, their children have a 50% chance of inheriting the BRCA gene mutation.”
While many of the patients depicted in the book opt for preventative surgery as a means of preventing cancer, Sheila Korn’s case highlights another reason for considering it. A pediatrician in New York, she went for genetic testing in 2011 because of the abundance of cancer on her father’s side of the family. After testing positive, she opted for an oophorectomy. During her workup, the doctor examined her ultrasound and found a mass on her ovary.
“That’s when I found out I had ovarian cancer,” she said. “I was feeling fine and had no symptoms. I might not have noticed this on a routine gynecological exam. Because I did this, I found it early.”
In her case, as in a myriad of other stories noted in the book, testing for the gene may have saved her life.