Ginny

Age at interview: 61
Outline:

Breast cancer runs in Ginny’s family. One of her sisters died from breast cancer ten years after her initial diagnosis. Four years ago, shortly before her sister died, Ginny was diagnosed with Stage I breast cancer. Genetic testing was recommended and indicated a PALB2 gene mutation and her close relatives are now being screened for breast cancer. Ginny had a lumpectomy, radiation, elective chemotherapy, and is closing in on her five years of anti-estrogen medication.

Background:

Ginny is a White, 61-year-old woman who lives in a residential area of a Midwestern city with her wife, 2 cats and a dog.

Cancer-Related Experience: Cancer

Type of Inherited Risk: Identified breast cancer mutation

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Breast cancer runs in Ginny’s family. Among other close relatives, one of her sisters recently died from metastatic breast cancer, ten years after her initial diagnosis of an early stage cancer. Ginny was diagnosed four years ago with Stage I breast cancer. Given the strong family history, genetic testing was recommended. Results indicated involvement related to a PALB2 gene mutation. Her close relatives have been informed and are getting aggressive screening for breast cancer.

Because Ginny’s Stage I tumor was so different from that of her sister, she decided to have a lumpectomy and radiation. But due to her tumor’s oncotype, she elected to have chemotherapy. To further reduce her risk, she is nearing the end of her five years of estrogen suppressant therapy. Having seen what her sister went through, Ginny says she “was not going to monkey around.”

She has kept up with work, despite the physical and emotional setbacks of the chemo and anti-estrogen therapies. She managed chemotherapy’s fatigue and nausea by pampering herself and taking anti-nausea medications. Hair loss was another matter. Her once thick, beautiful hair grew back slowly and sparsely. She is surprised how much being without—and now having thinner hair—impacted her self-esteem. The estrogen suppressant medication comes with severe joint pain that makes her feel like she’s “80 years old.” She was actually contemplating a hip replacement until her radiologist pointed out, well into her five-year treatment, that joint pain is a common treatment side effect. Ginny wishes she had fully understood the side effects and for her and for other estrogen suppressant therapies.

Ginny believes in having a strong and “clear-eyed” advocate. Her wife and family were key sources of support throughout the decision-making and treatment. Ginny is inspired that her sister, now deceased, got involved in every study that came along. She tries to follow in those footsteps to advance knowledge. Watching her sister die from breast cancer, and having it herself, has made Ginny think about her work in a more balanced way. She might retire earlier than she had planned and wants to spend more time enjoying nature and other aspects of life.

 

The interpretation of Ginny’s results has changed over time.

The interpretation of Ginny’s results has changed over time.

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You know, I'm trying to remember. I think it was after I was diagnosed that they put us in touch with the genetic counseling center. And they said, “we think you're odd enough as a family that we should do some testing.” [NAME], I think, paid for the BRCA1, BRCA2 type test. And then, when my mother and I came along, all of a sudden it was kind of a family cluster. They said, we want you to have this testing. They did find a gene in common that they referred to as PALB2. And they described it as, it pals around with BRCA2. And it's kind of interesting, interesting, because at the time they said, “this is a finding of unknown significance.” And then they came back a year later and said, “this is a finding of no known significance.” So they change sort of their mind, there. They're basically saying, “it means you're related. We don't think it has any bearing on the fact that the three of you have breast cancer.” And they made that determination because I have three other sisters. And so their question was, “do we be tested? Do we get treated differently?” And all three of them are on a more cautious regimen. They get twice yearly, alternating mammo and MRI. Two of the three, I think, are on an anti-estrogen. So they basically came back and said, there's no real reason to get the test, because no matter what it tells you, we don't know what it means to begin with. And secondly, it wouldn't change how they treat them. They're already on the preventive level of treatment that they would get anyway.
Because of the higher family risk?
Yes. Right.
Just the evidence that there's more risk?
Just the evidence. And so they can't really say it's that gene. So even if any one of them had tested positive, they would come back and say, “well, we don't know what to tell you about that gene, because we just don't know enough.”

And how did that feel to you, to get that sense of unknown significance or no known significance? Like, that kind of grey area?
I'm kind of a scientist, so I understand. I would not want them to extrapolate and tell me that it means something if they don't know that it does. I appreciated the follow up letter the following year that said, we've changed it from unknown to no known, because that means something to me. It confused the heck out of my mother. She didn’t understand what any of it meant.

 

Ginny tested positive for a genetic mutation often connected to higher cancer risk, but her clinicians didn’t think her particular version of the mutation was relevant for future screening and treatment choices.

Ginny tested positive for a genetic mutation often connected to higher cancer risk, but her clinicians didn’t think her particular version of the mutation was relevant for future screening and treatment choices.

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You know, I'm trying to remember. I think it was after I was diagnosed that they put us in touch with the genetic counseling center. And they said, “we think you're odd enough as a family that we should do some testing.” [NAME], I think, paid for the BRCA1, BRCA2 type test. And then, when my mother and I came along, all of a sudden it was kind of a family cluster. They said, we want you to have this testing. They did find a gene in common that they referred to as PALB2. And they described it as, it pals around with BRCA2. And it's kind of interesting, interesting, because at the time they said, “this is a finding of unknown significance.” And then they came back a year later and said, “this is a finding of no known significance.” So they change sort of their mind, there. They're basically saying, “it means you're related. We don't think it has any bearing on the fact that the three of you have breast cancer.” And they made that determination because I have three other sisters. And so their question was, “do we be tested? Do we get treated differently?” And all three of them are on a more cautious regimen. They get twice yearly, alternating mammo and MRI. Two of the three, I think, are on an anti-estrogen. So they basically came back and said, there's no real reason to get the test, because no matter what it tells you, we don't know what it means to begin with. And secondly, it wouldn't change how they treat them. They're already on the preventive level of treatment that they would get anyway.
Because of the higher family risk?
Yes. Right.
Just the evidence that there's more risk?
Just the evidence. And so they can't really say it's that gene. So even if any one of them had tested positive, they would come back and say, “well, we don't know what to tell you about that gene, because we just don't know enough.”

And how did that feel to you, to get that sense of unknown significance or no known significance? Like, that kind of grey area?
I'm kind of a scientist, so I understand. I would not want them to extrapolate and tell me that it means something if they don't know that it does. I appreciated the follow up letter the following year that said, we've changed it from unknown to no known, because that means something to me. It confused the heck out of my mother. She didn’t understand what any of it meant.