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

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  1. Thank you for sharing this story, sadly it happens too often!! after testing positive for BRCA1 I called a breast surgeons office to make an appointment to discuss Preventative mastectomy, I was told by the staff that I didn't need to worry if my mother's side didn't have cancer. I kept telling her I CARRY THE MUTATION!! but for some reason they didn't seem concerned because it was from my fathers side...I found a different surgeon!!

  2. That is astounding! Even after testing positive for a mutation you were told to not worry. Glad you found another surgeon but I do worry about the women who are patients of doctors who do not understand that genetics on both sides of the family are equally important in calculating risk. Keep telling your story. Someone will listen and learn!