Perhaps the most unusual of several patient cases presented at the recent Miami Breast Cancer Conference was this one:
A 38-year-old female with pathologic BRCA1m and SUFU mutation who had bilateral salpingo-oophorectomy (BSO) done at age 37. Other data on the case include the following:
- Recent breast MRI BIRADS 1. Normal breast exam
- Has an infant daughter with a brain tumor and BRCA+
- A maternal aunt with gBRCAm and breast cancer at age 40
- G1P1
The infant’s brain tumor was attributed to SUFU gene mutation. When extended testing was done, results revealed that the baby has a pathogenic BRCA mutation.
What to Do About Primary Prevention?
Patrick Borgen, MD, moderator of the discussion, opened by polling the audience with the following question and answer options:
My strong recommendation for PRIMARY prevention would likely be:
- Bilateral Total Mastectomy
- Tamoxifen Citrate 20mg/day
- Aromatase Inhibitor
- Ralosifene
- None of the above; secondary prevention only
The results showed an overwhelming preference in the audience for option 1 at 89%. The remaining options netted only 2% or 4%.
Elizabeth Mittendorf, MD, Director, Breast Immuno-Oncology Program Dana-Farber/Brigham and Women’s Cancer Center, Boston, opened the conversation by stating that she selected the first option, believing that the patient would ultimately need that intervention. But Dr. Mittendorf added that she would like to first have a conversation with the patient about timing. She referenced a convenient tool available online at ask2me.org that shows risk for developing a breast cancer in 5-year increments.
“It’s not as simple as saying, ‘Come to my office and let me talk with you about taking your breasts off,’” Dr. Mittendorf said, noting concern about whether or not the patient might want to have another child and breastfeed, for example.
What to Do About Secondary Prevention?
A second poll asked the audience to consider their preferred approach to secondary prevention:
- Annual tomosynthesis mammography
- Breast MRI
- 1 + 2
- Other imaging modalities
Again, the audience’s preference was clear with 89% of respondents opting for number 3.
Dr. Maxine Jochelson, Director of Radiology, Breast and Imaging Center, Memorial Sloan Kettering Cancer Center, was asked if she agreed with the audience. She said that she did, but added that she felt the best way to screen such patients is twice yearly MRI or another vascular study. Dr. Jochelson noted that the current standard of care is mammography alternating with MRI every 6 months.
Dr. Jochelson added that in such young women with dense breasts, she likes to use contrast-enhanced mammography alternating with MRI, to get a better mammogram.
And What About Estrogen Supplementation?
The third and final question put to the audience dealt with use of estrogen following BSO:
- I would be opposed to estrogen supplements
- I would be in favor of estrogen supplements with progestins
- I would be in favor of a hysterectomy followed by estrogen supplements
- I would not be in favor of chemoprevention
More than half of respondents (52%) opted for number 1. Nearly a quarter (24%) opted for number 3, while 16% chose number 4.
Dr. Debu Tripathy, Professor and Chair, Department of Breast Medical Oncology at The University of Texas MD Anderson Cancer Center in Houston, spoke in defense of estrogen:
“If the patient isn’t having a prophylactic mastectomy and we’re interested in prevention, one option is a hysterectomy because estrogen supplementation without progestins, at least in the general population, as shown in the Women’s Health Initiative Study, actually results in a lower rate of breast cancer.” He added that not only is breast cancer reduced by 25% in such cases, but also breast cancer deaths.
Dr. Mark Pegram, Associate Director for Clinical Research Stanford Cancer Institute,
responded by saying that although he originally chose option 1, he agreed that Dr. Tripathy made a good point.
“Any of these procedures we’re talking about are pretty significant changes for a young woman to have to undergo abruptly,” said Dr. Mittendorf. I think we need to take that into consideration.”
The case was presented by Dr. Julia Foldi, fellow in Hematology and Oncology at Yale.