Tag Archives: #mammogram

A tale of cancer and genetics: part 4 of 4

Summary: My wife had breast cancer. These posts describe: 1) finding out, 2) genetic testing, 3) radiation therapy, and 4) an incidental finding in the APC gene.

Incidental finding in the APC gene

Great news! Six months have passed since Kimberly finished radiation therapy for breast cancer. Today, she had a follow-up diagnostic mammogram that confirmed she is cancer-free! She will continue to be monitored over the next 5 years, but our big worries are behind us. Incidentally, we learned about a useful website during our journey, cancersurvivalrates.com that gave us a much better picture of survival rates.

Hereditary cancer screening

Let’s finish by returning to the variant in the APC gene that we found during expanded genetic testing and wrap-up this series.

During genetic testing, our genetic counselor ordered an additional gene panel to screen for other cancers due to Kimberly’s family history. As I mentioned earlier, our insurance company denied all of our genetic testing claims, saying that the expanded panel was not related to her breast cancer. Nevertheless, the information that we received was worth the $250 out-of-pocket expense. Given the lack of reimbursement, reasonable costs for clinical genetic testing will ultimately drive most of it to be physician-ordered but privately paid. Just be sure to get your data!

So, what did we learn?

As we know from autosomal dominant inheritance, a person affected by an autosomal dominant disorder has a 50 percent chance of passing the mutated gene to each child. And sure enough, we saw the APC gene variant in 1 of our 2 adult-aged children; the other child does not carry it. We know this because we have whole genome sequences for everyone in our family. Here’s what Kimberly’s genetic code looks like at this location:

APC variant T>A (rs1801155). Above: 30x WGS data visualized with IGV. More here: https://go.usa.gov/xGZmh

It turns out that this variant increases the risk of colorectal cancer from 5% (found in the general population) to 10% (in the population with this variant). So, the child with the variant should have a colonoscopy at age 40 (earlier than usual) and follow-up colonoscopies every 5 years after that. If you have a APC gene variant, talk to a genetic counselor–and show them some love! Note: This blog is not intended to replace advice from a medical professional.

Before publishing this story, we had a family meeting to discuss Mom’s cancer-free diagnosis, as well as the APC variant that one of them carries. All of us agreed to share this information with hopes that it will assist others.

Along the way, we learned that knowledge gave us the strength to move forward. I also have newfound appreciation for my wife, whose bravery knows no bounds.

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A tale of cancer and genetics: part 1 of 4

Summary: My wife had breast cancer. These posts describe: 1) finding out, 2) genetic testing, 3) radiation therapy, and 4) an incidental finding in the APC gene.

Leavenworth National Cemetary, November 29, 2019 (photo credit: Hannah Pickard Photography)

Finding out

It was the day after Thanksgiving. My wife Kimberly was talking with a nurse about the results from a biopsy performed 2 days earlier. She hung up her mobile phone and burst into tears. Kimberly received the call while we were exiting the gates of Leavenworth National Cemetary in Kansas, where we had just laid my mother-in-law Barbara to rest with her husband, Gilbert. Our kids were in the back seat and did not really know what was going on, but they guessed that mom had cancer.

The week prior, Kimberly had a diagnostic mammogram, and the radiologist told us in person that Kimberly had a suspicious lesion in her right breast (larger than a peppercorn, smaller than a pea) and recommended a biopsy. Luckily, a biopsy appointment was available the day before Thanksgiving, and we took it even though we were flying to Kansas City the next day. We asked the care coordinator to call us as soon as she had preliminary pathology results, and she did. Our family flew home to the San Francisco Bay area on Sunday.

On Monday, Kimberly and I visited the medical oncology department of a nearby clinic. The nurse said that Kimberly had invasive ductal carcinoma. Surprisingly, the rest of the visit did not turn into that dull surreal buzz that often accompanies bad news and drowns out everything else. In our case, years of being in rooms like this one discussing the needs of our exceptional children proved immensely useful. I took notes and Kimberly asked incisive questions about treatment options, radiation therapy, and genetic counseling. The nurse patched-in our long time family physician over the phone, and his presence was very assuring. It was a brief respite from what would become an overwhelming 3 month journey–the first 2-3 weeks especially so. We learned about a bewildering array of cancer treatment options, visited competing medical facilities, and evaluated new doctors.

We drove home and I read the Wikipedia entry for invasive ductal carcinoma. It was the prognosis section that caught me completely off guard:

Overall, the five-year survival rate of invasive ductal carcinoma was approximately 85% in 2003.

Reference: https://doi.org/10.1186/bcr767

Those odds were not good, and I had multiple panic attacks over the next few weeks at the thought of losing my wife. “Hang in there. Moment by moment,” a friend texted to me. I read that message over and over, hanging on.

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