Over the last few years we’ve been hearing more about BRCA testing and BRCA gene mutations, especially when actress/BRCA gene carrier Angelina Jolie revealed she had her ovaries removed and a double mastectomy in order to prevent cancer, a disease that took her mother. Like many of you, I always thought that the BRCA gene was rare, but according to renowned physician Dr. Richard T. Penson, MD who is an Associate Professor of Medicine at Harvard Medical School Associate Professor and Clinical Director Medical Gynecologic Oncology, Medicine, Massachusetts General Hospital, it isn’t and not every one who has the gene mutation has an “obvious family history” of it.
Dr. Richard T. Penson, MD was kind enough to join me for an interview recently to discuss the biggest BRCA testing myths and misconceptions and he revealed why all women with ovarian cancer should be screened.
Candace Rose: What are some of the most common misperceptions about BRCA testing?
Richard T. Penson, MD: “It’s been an incredibly exciting time. We feel like this is the new era in cancer care, that we now understand the biology, why people get cancer, what’s driving the cancer, and things like BRCA testing are now part of standard care with new drugs like Olaparib.
The commonest misperception is that it is rare. Quite a few of our patients have this, nearly half of the patients who carry a BRCA mutation don’t have an obvious family history so there is a big push to get BRCA testing in all patients who have ovarian, fallopian tube, peritoneal cancer and some other cancers as well.
Increasingly, we’re seriously looking at prostate, pancreas, stomach, and though people think of breast cancer associated gene (BRCA), ovarian is most important and there is a broader range of things for BRCA2 in which it plays a role.”
Candace Rose: What is a BRCA gene mutation and how does it impact ovarian cancer diagnosis and treatment?
Richard T. Penson, MD: “I think one of the useful things that are one of the best ways to explain it is the description that was used by Dr. Elledge, who is from Boston and he describes it as every time a cell replicates, makes a new daughter cell it’s copying the equivalent of a blueprint for a city.
The genetic makeup of human cells is so complicated that it’s a massive task. There are errors in how you copy the DNA into the next daughter generation. Any missed copy of a bit of DNA is a mutation. The human body is set up that there are paired chromosomes duplicating things and these are called autosomal dominant genes, so just one wrong copy is enough to really effect the biology, enough to cause a predisposition to cancer as a disease, that germline BRCA mutation that people inherit. When that mistake happens the proteins that are key to DNA repair don’t work as well and so you’re more likely to fail to repair the DNA of cells that copied their DNA, and that predisposes people to getting cancer of breast or an ovarian cancer.”
Candace Rose: Why is ovarian cancer so difficult to treat?
Richard T. Penson, MD: “It’s difficult to treat because of two main reasons. 1 in 70 women will get it and it’s a cancer that presents in subtle ways. Most cancers if you can sort of see or feel them like a skin cancer or a breast cancer, you detect it when it’s about a centimeter and you chop it out surgically. Because the ovaries are hidden down in the pelvis, tumors can enlarge and spread before they’re detected either by patient symptoms or by the doctor. It’s three quarters of patients that are present with advanced disease.
The second reason is that the tumors become resistant to standard treatments. 70/80 even 90% of patients are going to get into remission with first-line surgery and chemotherapy, but just too many people are going to have a recurrence, and over time (people typically live with their disease for years) the tumors are going to develop resistance to the chemotherapy and prove fatal in too many patients.”
Candace Rose: Who is at risk for BRCA-mutated ovarian cancer and who should be tested?
Richard T. Penson, MD: “We’ve moved from the old recommendation that patients with family histories in which there’s two first-degree relatives (mother, sister, daughter) with breast or ovarian cancer and one of them is under 50. The new recommendation is anybody with the disease should be tested so that we detect more.
Mary Claire King who discovered BRCA1 (the first gene to be discovered), she put out a call last year when she won the Lasker award that everybody over the age of 30 should start getting tested and that has a real rational. The idea is to find the patients before they ever develop cancer. We are moving towards a new era in personalized medicine where we might be able to to detect all the mutations before patients who carry those mutations from a previous generation actually develop cancer.”
Candace Rose: Where can readers go for more information?
Richard T. Penson, MD: “The internet is a fabulous source. I think it’s really good advice to say talk to your doctor. Once a year people should be getting a pelvic exam. They should talk to their doctor about these sort of things. If they come from a high risk population like an Ashkenazi Jewish family, they may well know about it from the family. The internet has a lot of information on things and there’s a lot of advocacy groups like FORCE that provide useful information.
Angelina Jolie – last year by sort of autobiographing her experience in the New York Times, I think it’s really raised awareness, though it’s much easier to find information on the internet.”
Dr. Richard Penson, MD is Associate Professor of Medicine at Harvard Medical School. Dr. Penson came from St Bartholomew’s Hospital, London, in 1997 and his practice is devoted almost exclusively to gynecologic oncology with the majority of patients having ovarian cancer. Dr. Penson sits on the national Gynecologic Oncology Group (GOG) committees for quality of life research, and the NCCN Ovarian Committee. Dr. Penson attends on the Bigelow General Medical Service at Mass General, serves as the chairman for panels C, and E of the Institutional Review Board of Dana- Farber/Partners CancerCare, and is a faculty member teaching on Patient Doctor I, for first year Harvard Medical students.