Friday, October 22, 2010

Mythbusters: Inheriting breast cancer risk from dad

Truth or myth?
"You don't need to worry about the breast and ovarian cancer on your dad's side of the family.  You can't inherit breast cancer from your dad."
Myth, 100% myth.

There are lots of breast cancer myths out there but this is one of the ones that drives us most crazy, not only because this is untrue but also because these words often come from the mouths of those people we trust most, our doctors.  The following is a true story of what happened to one women whose doctors told her she could not inherit breast cancer risk from her dad:

I looked at my dad's gaunt face as we walked, holding hands, through the doors of a well-known New York City hospital devoted to cancer care. Just a few days earlier I had to make the dreaded call to tell him that I was diagnosed with the same disease that took his mother’s life in 1963. He was only nineteen when his mom died of metastatic breast cancer at the age of forty-five, and he had vowed to never again step into the building that held so many deeply painful memories.
When I discovered a tender lump in my left breast just after my thirty-sixth birthday, I was a bit surprised but didn’t think I had reason to be alarmed. Although I knew my father’s family history, which included not only his mother dying of breast cancer at an early age but also an aunt with breast cancer and a grandmother with ovarian cancer, it was my understanding from several doctors and a college human biology course that women inherit breast cancer risk from their mothers (and that breast cancer doesn’t cause pain). Counting on that to be true, I figured I had either bruised my breast or had some sort of benign cyst. After all, I was young and healthy, and my mom’s side of the family was cancer free.
The lump did not go away. After three months, during which my anxiety level kept rising, I went to see my gynecologist. She reviewed my family history, performed a breast exam, and confirmed that she did feel a lump. She told me that it didn’t feel like cancer to her. She also said that because no one on my mom’s side of the family had breast cancer, I needn’t be particularly concerned. She reassured me that it was “probably nothing” but gave me a prescription for a breast ultrasound and mammogram just in case.
Although I trusted her, the lump had been there for a few months, and I had a terrific fear somewhere in the depths of my mind that something was really wrong. “Probably nothing” was not resonating for me. I decided to have an ultrasound of my breast (it was too sore for a mammogram) as soon as I left her office. The radiologist told me that the ultrasound showed calcifications and recommended we probe further. All alone, scared out of my mind, and several large core needle sticks later, the biopsy confirmed my most dreaded suspicion: I had breast cancer.
I was devastated. I cried a few times but for the most part, went into numb shock. I was determined to make the very best decisions to protect my life. Fortunately, I live in New York near one of the top cancer centers in the world. I went there with my father to meet with the best breast surgeon I could find.
I presented my pathology report to the quirky, brilliant surgeon with amazing hands. Her nurse practitioner took my medical history, which included all the breast and ovarian cancer on my dad’s side of the family as well as my Ashkenazi Jewish heritage. None of this information seemed to faze my surgeon, who recommended a quadrantectomy (essentially she was going to remove a quarter of my breast) and thought my husband’s suggestion that I have a mastectomy was “unnecessary and radical.” I felt powerless but I was relieved to hear that I would still be able to keep about three-quarters of my breast. I was eager to get the cancer out of my body. 
My post-surgery pathology report showed my cancer was high grade, poorly differentiated, triple negative, and 75 percent invasive. Translation: very aggressive and very dangerous. My breast surgeon recommended four months of chemotherapy followed by radiation therapy. She never mentioned genetic counseling, genetic testing, or the possibility that my cancer might have been caused by a faulty BRCA gene.
My dad returned to his home on the West Coast a week after my surgery and told my story to a medical oncologist friend who was then CEO of the cancer center in San Diego where Dad serves as trustee. This doctor told him that I needed to be tested for BRCA mutations, because although the medical community had long believed that breast cancer was passed from mother to daughter, Dr. Mary-Claire King’s discovery of the
BRCA1 gene had proven that men can be carriers who pass the gene along too. 
Armed with this information, my father flew back to New York, and together we met with a Certified Genetic Counselor. I tested positive for the BRCA1 mutation named 185delAG, one of the Jewish founder mutations. So did my dad. 
Although I had already been diagnosed with cancer, the implications of being BRCA positive were enormous. My risk of recurrence was huge and I had a significant chance of developing a “second primary” (a new breast cancer). After getting second and third opinions from breast oncologists and meeting again with the Clinical Genetics Department, all interspersed with frequent tears and soul searching, I decided to have prophylactic bilateral mastectomies with immediate implant reconstruction. For me, this risk-reduction surgery was the only option. After my experience with cancer and chemotherapy, I knew I would live in fear of finding another cancer, especially since my risk was so high. 
Once we realized the immense risks posed by carrying a BRCA mutation, we wanted to know why I had not been referred to genetic counseling earlier. Dad and I went back to the head of the Clinical Genetics Department at the cancer center where I had been treated. 
“My daughter came here at age thirty-six with breast cancer, as an Ashkenazi Jewish woman, with a profound history of breast and ovarian cancer on her father’s side of the family. Your hospital’s guidelines and the National Comprehensive Cancer Network guidelines both call for genetic counseling in a case like this. Why wasn’t she recommended for genetic counseling and testing?” My father asked.
The answer he received was unfortunate and coldly political. “In this hospital a referral to the Clinical Genetics Department is made at the surgeon’s discretion. Your daughter’s surgeon has never referred a single patient to our department.”
If my family history had been correctly identified and if I had received genetic counseling before my first surgery there is no doubt in my mind that I would have chosen bilateral mastectomies rather than a quadrantectomy. My doctors, by failing to discuss the BRCA genes with me or to refer me for genetic counseling, prevented me from making a truly informed decision prior to my first surgery. The unnecessary quadrantectomy was incredibly painful and also greatly compromised my subsequent reconstructive results at the time of my mastectomies.
I am a survivor who has been able to make some tough decisions. The knowledge I have about my mutation has enabled me, I hope, to made decisions that will now allow me to live a long, full, and meaningful life.
But what about other young women just like me? How many with a telltale family history have a false sense of security because, like me, they’ve been told “cancer doesn’t hurt” or “women don’t get cancer from their fathers.” How many women are living with a life-threatening mutation without the benefit of good surveillance and/or risk-reducing actions because they’re unaware they should consult with a certified genetics counselor and potentially be tested for a BRCA mutation? Sadly, not all physicians can give good advice on genetic issues.  That means individual patients—both men and women—must become informed about their inherited medical history on both sides of the family, and make their own educated decisions about what’s right for them.

Reprinted with permission from Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License.

Thursday, October 21, 2010

Triple negative breast cancer in the Bahamas

The following blog is from the Triple Negative Breast Cancer Blog:

by Steve K.

Some months ago a young reporter, Candia Dames, at The Nassau Guardian, the island’s oldest (1844) and most respected newspaper, reported on the fact that scientists had discovered an African BRCA Founder’s Mutation much like the Ashkenazi BRCA Founder’s Mutation I have. I wrote Candia and arranged to meet her July 29th at their headquarters in Nassau. I brought her a copy of the book Positive Results that my daughter and I had written passages in.

I told her that I felt it is important to get the word out that men can inherit the BRCA mutation and pass it on to their children. Turns out Candia lost her mother to breast cancer when she was 24. We had an extraordinarily intense 30 minute meeting and she “gets it.” She had told me in advance, that her time with me would be very short because she was leaving for two week holiday that night. Surprisingly, as we finished talking, she asked me “how would you like to be on TV tonight?”

I agreed and literally 5 minutes later a cameraman came out and shot Candia interviewing me. I think the interview was about 20 minutes long (I think they cut it to 5 minutes-I wasn’t able to view hotel did not carry the channel…unfortunately, to date, I have been unable to get a copy of the interview. I will put it on the blog if I ever get one). I then introduced Candia to my friend who is very ill and it turns out his son was very much in love with her sister. Nassau is a small place..Lots of cousins marrying cousins over the centuries just like Ashkenazi Jews. Good breeding grounds for BRCA.

I am attaching the article Candia crafted in a remarkably short period of time…There is a minor error at the end, third paragraph from the end  misquoting me-I had said that fathers can pass the mutation on to their sons and/or daughters who in turn can pass it along to their children. But, overall I think she did an excellent job..and folks got the message that dads can carry this mutation and pass it along.

The next morning I was having breakfast at the hotel and I had a copy of the paper on the table..A waitress came over to me and said “hey, that’s you, right?” and she called her friend over who said “I saw you on TV last night and I am glad I did because I am going to speak to my Daddy…His mother and two aunts and Grammy all had breast cancer early and they all gone..keep talkin’, man..this is important..for my daddy and maybe, me”

The waitress said it so genuinely…even if she is the only one to take action, I feel it was worth the effort…My advocacy work, in this country, feels so right and it was so heartening to have a reporter think the information was important enough to put it TV and on page one of the newspaper. But my satisfaction at getting the information out was tempered drastically by the following incident-
Fast forward a couple of months to last weekend at the ASCO Breast Symposium in National Harbor, MD. I was walking through the exhibit hall and I hear someone yelling “hey, Steve”…I turn and it is my friend’s surgeon from the Bahamas. He is an exceptionally nice young man…my guess is late 30’s…hey, that’s young to me…I will be 67 in a few months. I told him that I wanted to go back to the Bahamas and raise awareness and try to get more women counseled and tested for the new BRCA1 African mutation…”no, please don’t do that..” “Why?” “If a Bahamian insurance company finds out that a young woman has the BRCA1 mutation they will drop her coverage and her family, too…as a “pre-existing condition.”

In 2008, our Congress passed the GINA law which helps protect folks here with their health insurance..not so for life insurance…but at least for health there are some protections…albeit not perfect. But no such law exists in the Bahamas and if a young woman wants to test and the insurance company knows her status she can forget about getting her surgery paid for. Of course all genetic mutations are pre-existing…and the insurance companies use the fact that they are to deny women coverage.

The doctor told me that he treats his patients “as if they are positive”…”wow, what if they are not positive?”…”yes, I know, but what is the alternative?” I am afraid I did not have an answer for him. All I know is that teenagers and women in their 20’s, 30’s are being diagnosed with aggressive triple-negative-breast-cancer and it simply breaks my heart that these young women can’t test…can’t have prophylactic risk-reducing breast or gynecologic surgeries that will be covered by insurance..Lives are being lost because of these Neanderthal insurance policies..I think we can assume that there are no previvors doing risk-reducing surgeries and getting the procedures paid for as is the case in the U.S. A Bahamian BRCA1+ woman is denied coverage if the insurance company knows she has the mutation. If the insurance company doesn’t know the woman has to wait until she has breast or ovarian cancer until she has insurance coverage. There is no way a woman, at high-risk, in the Bahamas can try to test and then protect herself if she wants the surgery covered by insurance.  I would say that 99% of the women in the Bahamas would not be able to pay for the surgeries on their own. My daughter faced odds that meant that she faced an approx. 85% risk of getting breast cancer in her lifetime and a separate 45% risk of getting ovarian cancer in their lifetime.  These odds are tragically sad and the policy of “pre-existing” condition denial in the Bahamas is truly pathetic and unjust in my view.
As suggested by my dear friend’s surgeon, I am going to try to join the small, but growing, effort for new legislation in the Bahamas. It seems, according to the surgeon, that the Bahamian insurance companies take things to another pernicious level by not only denying the woman but also refusing coverage for her family. Hopefully, over the next several years we can get the laws to change. In the meantime, my heart aches. So, the waitress, above who wanted her daddy to test better tell him to do it surreptitiously..And if he and she, G-d forbid, have the BRCA1 mutation, what do they do with the information? Increase surveillance, at a high-risk clinic, would be the answer in the U.S. but what about the Bahamas? As I think about I guess it is important for the BRCA information to be made public in the Bahamas. On a practical basis, for sure there are Bahamian legislators who have been touched by early-onset breast or ovarian cancer in their families and they will, most likely, be the ones to champion the legislation. At least that is my dream and I am going to do my best to have the legislation changed.

As an aside, what is obvious to me, out of all this is that contrary to many racist beliefs held in this country that white is superior to black or brown the Human Genome Project of a few years ago has shown that we are all people, almost identical, most of the times, DNA-wise. Eighty percent of BRCA1+ women in the U.S. who have breast cancer have triple-negative breast cancer and the overwhelming majority of Bahamian women who carry the African BRCA1 founders mutation, I am told, also have triple-negative breast cancer. Folks with different histories winding up with a BRCA1 mutation and triple-negative breast cancer. We are one.

all the best,

Wednesday, October 20, 2010

The contoversy over thermography

October has become "all things about breast cancer, all the time" and while a lot of the information that makes headlines in October are helpful, informative, and potentially lifesaving, some of the information out there is decidedly "none of the above."  In our last post we talked about the variety of breast cancer screening options available today, many of which are still experimental.  With this post we focus on one technique in particular that we find problematic because it is highly touted on the internet without scientific data to support its use as an effective screening technique.  This technique is called thermography, although it does go by other names, including infrared mammography and computerized thermal imaging.

We focus on thermography here because of a recent article in the Huffington Post touting its benefits.  Dr. Christiane Northrup's article is well written and persuasive and judging by the comments legions of women are currently following her advice to give up their yearly mammograms in favor of thermography.  But we sincerely hope than none of the fans of Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer are among those making what we consider a dangerous step away from mammography and breast MRI.   

Why?  Because thermography, although studied seriously since the 1970s, has not been proven sufficiently effective at finding cancer to replace either mammography or MRI.  Dr. Northrup's article is not science, it is fluff and advertising for a technique that may actually cause harm.  Fortunately, we were not the only ones who noticed Dr. Northrup's slick sounding article.  A breast cancer surgeon and science blogger has blogged in detail about the falsity of virtually every assertion in Dr. Northrup's article in his blog The Huffington Post promotes breast cancer quackery again, which we urge you to read, both because it is entertaining and because it methodically reviews the hype and the science of thermography.

Monday, October 18, 2010

October serves as a reminder to schedule your breast cancer screening

October began turning pink for breast cancer awareness more than 25 years ago. A lot has changed in that time. October is now not only about awareness of this disease. It is about raising money to find/fund a cure or in the words of Dr. Susan Love, not to find a cure but to find the causes so that we can prevent breast cancer in the first place. October is also for reminding women to schedule their breast cancer screening because early detection saves lives. We are all in favor of the reminder to women to schedule their breast screening. But what kind of screening? There is increasing confusion about when women should begin screening and what type of screening they should have.

Part of the confusion comes from the change in screening mammography recommendations from the United States Preventive Services Task Force (USPSTF) in November 2009. The USPSTF no longer recommends regular screening mammograms for average-risk women between the ages of forty and forty-nine. Much of the confusion over these new guidelines stems from an assumption that they advise against mammography in all average-risk women in their forties, which is not the case. Rather, the USPSTF urges women who have risk factors for breast cancer, including a first-degree relative with breast cancer or a personal history of abnormal breast changes, to continue to work with their doctors and do appropriate mammography screening, even in their forties.

The mammography controversy is not a new one, despite the headlines of the past year touting it as such.  If you are interested in a detailed and thorough review of the research and the politics behind mammography screening recommendations check out Understanding the Mammography Controversy: Science, Politics, and Breast Cancer Screening by Madelon L. Finkle. Nonetheless, various groups including the American College of Radiology, the American Cancer Society, and Susan G. Komen for the Cure still recommend that women in their forties have annual screening mammograms to check for breast cancer.  The American College of Radiology points to a recent Swedish study that find the death rate in women ages 40 to 49 is reduced by one-third by use of screening mammography.

Another part of the confusion comes from the plethora of other breast screening modalities available, which range from the well established to the experimental to the unproven. We devoted an entire chapter of Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer to all of the various breast cancer screening techniques and the scientific studies that support or do not support their efficacy in either high-risk or average-risk women.  Specifically, we discuss:
  • Mammography (both film and digital)
  • MRI
  • Ultrasound
  • Digital Breast Tomosynthesis
  • Breast CT
  • Cone Beam Breast Computed Tomography
  • Automated 3D Breast Ultrasound
  • PET/PEM scans
  • Molecular Breast Imaging (MBI)
  • Breast Specific Gamma Imaging (BSGI)
  • Elastography
  • Ductal Lavage
  • Halo Breast Pap
  • Thermography
We discussed PEM and BSGI again in a recent post in light of a new study on the increased risk for future breast cancers caused by the radiation exposure of these new techniques.

Despite the controversy about when to begin mammography, it remains the mainstay of breast cancer screening because it is an inexpensive, effective tool for detecting early-stage breast cancer.  Is it perfect?  No.  It can miss some cancers, especially in young high-risk women, which is why adding MRI to the screening protocol is recommended for high-risk women.  Just a reminder, Dr. Gordon's breast screening recommendations for high-risk women are:
  • Breast surveillance beginning at age twenty-five or ten years earlier than the youngest breast cancer in family (but no earlier than age twenty).
  • Baseline digital mammogram at first surveillance to assess breast density and for MRI comparison.
  • Annual MRI.
  • Additional mammograms under age thirty-five if determined to be clinically useful.  Annual mammograms (in addition to annual MRI on an alternating six-month schedule) beginning no later than age 35.
  • Clinical breast exams every four months.
  • If high-risk surveillance is recommended due to moderate to high childhood radiation exposure (such as for childhood cancer treatment) surveillance should begin either at age twenty-five or eight years after the end of treatment, whichever is later.
Wednesday:  The controversy over thermography.

Thursday, October 14, 2010

Video on the JAMA report

Here is a video on the Jounal of the American Medical Association Study from September 1, 2010 that you might not have seen:

We discussed this research in our prior blog: Beyond the headlines: Prophylactic surgery reduces risk and saves lives.

Wednesday, October 13, 2010

Faces of Metastatic Breast Cancer

For every view of this video TODAY Genetech will donate $1 for metastatic breast cancer research. A few minutes of your time, what an easy way to give.

NFL goes pink

 I went to a parent meeting at my son's school Monday evening and when I arrived home I found my husband and both of my sons firmly planted in front of Monday Night Football.

"Look Mom," said my younger son, "they all have pink breast cancer ribbons on their helmets."

"And the referees have pink whistles and pink ribbons on their hats," added my older son.

Although they continued to point out pink cleats and other pink items in the game they did not catch them all, which include:

» Game balls with pink ribbon decals used for every down
» Players wearing pink cleats, wristbands, gloves, chin straps, sideline caps, helmet decals, eye shield decals, captains' patches, sideline towels and quarterback towels
» Pink coins used for the coin toss
» Pink sideline caps for coaches and sideline personnel and pink ribbon pins for coaches and team executives
» Officials wearing caps with pink ribbons, pink wristbands and pins and using pink whistles
» On-field pink ribbon stencils and A Crucial Catch wall banners
» Pink goal-post padding in end zones

It was true, that bastion of male machoness has gone pink this month.  Both the players and the referees are supporting breast cancer awareness and cause marketing by wearing pink ribbons and making donations to breast cancer organizations.  Nationally the NFL has adopted the American Cancer Society as its pink charity although specific teams have adopted various breast cancer organizations.  A quick rundown of the NFL's Pink October activites can be found here.

Monday, October 4, 2010

Shop for the Cure

 When I wake up in the morning I head to the kitchen to make coffee.  Now that October is here I could do a complete kitchen overhaul with pink appliances.  I could buy a pink Kitchen Aid mixer, a pink coffee maker, a Brita Pink Water Pitcher, a pink blender, a pink food processor, and a pink ice cream maker and a portion of the purchase price would go to support finding a cure for breast cancer.  I also could stock the refrigerator and the pantry with  pink ribbon yogurt, bottled water, juice, bagels, tea and even breakfast cereal while supporting breast cancer.  In fact my local grocery story has eight pages of product ads linked to breast cancer this week.

I could buy a new pink vacuum for my morning cleaning.

After getting the kids off to school I often head to the gym, where I now have a new pair of pink workout gloves adorned with the cute little pink ribbon for breast cancer.  My local Sport Chalet has pink ribbon balance balls, free weights, and yoga mats for my workouts at home.

Back from my workout I hop into the shower.  I could dry my hair with a new pink hair dryer, then do some styling with pink hot curlers or a pink straightener, depending on my chosen style.  Of course I shouldn't forget my pink ribbon lipstick before I head out for the day.

In the office I need to use my pink breast cancer Sharpie and pink ribbon pens with my pink Post-it notes.  I should definitely use a pink ribbon calculator, pink ribbon file folders,  and pink ribbon pencils in my pink ribbon electric sharpener.  Of course I already have a pink neoprene case for my laptop.

Stepping outside I can don my breast cancer awareness sunglasses on my way to pick up the kids from school or when going out to shop for even more pink ribbon products, including bathroom tissue for the cure, although fortunately that is not pink.

Next blog:  Where do all the pink dollars go?   Stay tuned for more information on where all the money goes.  In the meantime, you can do much of your breast cancer shopping on Amazon without ever leaving home.