Expert Interview: Screening, Risk and Genetic Testing, Part 1 Breasts 101

Expert Interview: Screening, Risk and Genetic Testing, Part 1

Dstolier_alanr. Alan Stolier is a surgeon at the Center for Restorative Breast Surgery in New Orleans. He has more than 35 years of experience in surgical oncology. He specializes in the surgical treatment of breast cancer and is a pioneer in the development of nipple-sparing mastectomy. Dr. Stolier also focuses on breast cancer genetics and the associated care of women who have a BRCA and other gene mutations.

Breasthealth.org talked with Dr. Stolier about current breast cancer screening recommendations and how women can better understand their own personal risk of breast cancer—and potentially manage that risk. Even though most women who get breast cancer do not have a family history, it is the risk factor with the most evidence behind it. So we also asked Dr. Stolier about how women can decide whether they might be at risk for hereditary breast cancer and what they can do about it.

SCREENING AND RISK (Part 1 of a 3 part series)

Questions:

1. What are the current breast cancer screening guidelines for all U.S. women?
2. Why is breast cancer screening important for all women, not just those with a family history of breast cancer and/or an inherited gene mutation known to increase risk?
3. How can a woman understand her personal risk of breast cancer?
4. Are there any tools a woman can use to assess her risk by entering information about herself?
5. How does a woman begin to have a conversation about breast cancer risk with her doctor? Does she start with her general practitioner? Her gynecologist?
6. For all women, whether or not they carry an inherited mutation, can you talk about ways that breast cancer risk can be lowered?

Answers:

1. What are the current breast cancer screening guidelines for all U.S. women?

We are kind of in flux right now about screening. I begin screening all of my patients at age 40, but this differs from what some of the major organizations recommend. In 2015, the American Cancer Society came out with new guidelines recommending that yearly screening mammograms start at age 45 and then, beginning at age 55, they would go to every other year  and continue as long as a woman is healthy.

The other big player here, the U.S. Preventive Task Force, recommends starting screening every other year at age 50 and continuing to age 74, then deciding whether or not to continue based on the woman’s health. The guidelines do allow for exceptions, where it is left up to the physician to decide whether screening should begin at age 40 or somewhere between ages 40 and 49. That could depend on other factors, such as family history.

But then again, if you look at the Memorial Sloan Kettering website, they continue to recommend yearly screening beginning at age 40. So I’d say it is not unreasonable to follow any of these recommendations based on the advice you get from the doctor you’re seeing.

Even as guidelines shift, we have not had any issues with insurance coverage for annual screening beginning at age 40. You just have to make sure to order each screening at least a year-and-a-day after the last one.


2. Why is breast cancer screening important for all women, not just those with a family history of breast cancer and/or an inherited gene mutation known to increase risk?

Every woman is at risk. Women often feel like if there’s no one in their family with breast cancer, they’re not at risk, and of course we know that’s wrong. A majority of women diagnosed do not have hereditary breast cancer.

Another issue is that most women know someone who has had breast cancer that did not get picked up on a screening mammogram, so they question its value. But I point out that for every cancer that wasn’t picked up, there are dozens more that are. We don’t want to throw out a screening test that’s very, very good, but not 100-percent accurate. I also think denial of breast cancer risk is a big issue. Women don’t screen because they don’t want to know. But screening is important for all women.


3. How can a woman understand her personal risk of breast cancer?

So, there are two ways to assess risk. The first is, “What is the absolute risk of developing breast cancer?” And the second is, “What is my risk of having a genetic abnormality that causes breast cancer?” These can intertwine somewhat, but generally they are separate issues – hormonal risk factors versus hereditary risk factors.

Hormonal risk factors essentially mean prolonged lifetime exposure to female hormones — things we actually know are associated with an increased risk of breast cancer. Early menarche — starting your period at 9, 10 years old — has been shown to increase risk in large population studies. So has late menopause. Taking postmenopausal hormone replacement therapy – there is a bit of controversy there, but we think that combined therapy with estrogen and progesterone is probably associated with an increased risk. Age at first pregnancy – women who have their first complete pregnancy at age 30 or later, or never get pregnant, tend to have a higher risk than those who have first pregnancies at an earlier age.

The other thing that we have now found to be important is breast density [having more glandular tissue than fatty tissue]. It is probably some form of hormonal reaction, but it can be an inherited trait. A likely smaller risk factor is obesity, which increases the level of estrogen.

Hereditary risk factors are a whole different story. So we ask women about their family history of breast cancer, and we’re especially interested to know if anyone was diagnosed before menopause or before age 50. We want to know if anyone had bilateral breast cancer or cancer in both breasts. We want to know about a history of other cancers that can be related to breast cancer risk, such as ovarian cancer, prostate cancer, melanoma, pancreas. Male breast cancer is very important.

We also look for a history of what we call triple-negative breast cancers. That means breast cancers that are not hormonally sensitive — they do not express what we call the estrogen and progesterone receptors — and they do not express a special gene called HER2. And last, their ethnicity can be important. We want to know if they come from a family that has Eastern European Jewish heritage, what’s called Ashkenazi.

What we’re really trying to do is decide whether or not we should test for one of the gene mutations that are linked to higher breast cancer risk. About 20 – 30 percent of women who get breast cancer have a family history, but, out of those, only about 10 percent of the total actually have hereditary breast cancer caused by an inherited mutation.


4. Are there any tools a woman can use to assess her risk by entering information about herself?

There are a lot of tools. Some are available to the general public but most are not. And none of them is perfect. The most commonly available one is the Gail Model, found on the National Cancer Institute website. People can literally look at it, plug in whatever the tool is asking for, and come up with a general risk. It’s got a weak spot though, and that’s family history. It focuses more on hormonal issues that increase risk.

None of these [tests] right now add in breast density, and there’s a reason that they don’t. Number one, we don’t have enough data, and two, we’re having trouble deciding on what makes a dense breast and how to categorize it — “really dense” versus just “kind of dense,” for example.

Editor’s note: As Dr. Stollier mentions, there are various tools used by health care providers; however there are tools designed for the general public, such as hereditarycancerquiz.com/breasthealth by Myriad Genetics and assessyourrisk.org and exploreyourgenetics.org , both from BrightPink. Additionally, there are genetic tests available to consumers such as 23andme and Color Genomics.


5. How does a woman begin to have a conversation about breast cancer risk with her doctor? Does she start with her general practitioner? Her gynecologist?

I am a firm believer that people need to advocate for themselves. You can’t assume that just because you gave a family history or medical history to your primary care doctor, whether it was a general practitioner or an internal medicine specialist or gynecologist, that they are knowledgeable about breast cancer risk. Many times they are zoned in on other areas, and so it is important for a woman to talk to her doctor but to advocate for herself to say, “I’m concerned about this,” especially if she could be at risk for hereditary breast cancer.

If her doctor does not pay attention to these concerns, then I would suggest that she see another provider. That might be a breast specialist, who tends to be a surgeon who either has fellowship training or has taken a special interest in breast. She also could ask her physician to refer her to a genetics counselor, who may be helpful in sorting out what could be a complex family history.


6. For all women, whether or not they carry an inherited mutation, can you talk about ways that breast cancer risk can be lowered?

I think that we would want her to manage her weight, since [it] appears that obesity is a risk factor. Secondly, eating healthy. This is a tough one. It’s controversial because we don’t have any data we can put our fingers on and say, “If you eat this diet, you’re better off.” But eating and weight go hand in hand. I always say “watch your sugar intake.”

Exercise, too. I would say somewhere between three and seven hours per week. It doesn’t have to be really intense exercise, even something moderate, like a brisk walk.

Limit alcohol. There are some differences of opinion as to the number, but some people say there is a 15- percent increase in risk with three drinks per week. I tell my patients they don’t necessarily need to quit drinking, but they need to be more reasonable about what they do. Reserve their drinking for the weekend and then only have a couple of glasses of wine or beers or cocktails.

Stop smoking. Of all of the things that effect health, smoking is probably number one. We don’t know for sure it increases breast cancer risk, but it does for lung cancer and heart disease and so many organ systems.

The last thing on the list that you have control over is hormone replacement therapy. The Women’s Health Initiative data came out, and they suggest that prolonged use of combined hormone therapy, meaning estrogen and progesterone, almost certainly increases breast cancer risk. The use of estrogen alone, however, has not shown that. In fact, it showed a decreased risk. This doesn’t mean that women can take hormone replacement estrogen for 20 years. My guess is they can’t.

I tell women to go on the lowest dose of estrogen or combination therapy they can and then reevaluate that every single year and to consider going off. Some people ease into menopause, and for some it’s like a big storm, it’s very disruptive, and so I think the ones that ease in may not have to take anything. I think that this particular issue, over time, is going to even be more clear than it is today.

Continue to Part 2 of our interview with Dr. Stolier.

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