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> After surviving breast cancer, still another genetic test ... (https://www.elsevier.com/connect/archive/After-s…

After surviving breast cancer, still another genetic test ...

I’m cancer free and BRCA negative – but now there is PALB2, and I took the
plunge
By Mary K. Craige
    Posted on 27 October 2014

After delivering the news that I had

invasive ductal carcinoma and explaining
my pathology report to me, my breast
surgeon followed up with the question,
"Do you want to know if you have the
mutation that causes breast cancer?"

Shocked and overwhelmed, I said "yes."

Within five minutes, the nurse was in the

exam room, swabbing my cheek and
telling me that they would have results in
three to four weeks. I remember my
surgeon saying, "The results will impact
your treatment and surgical decisions."

I left the office in tears, unsure what was

Mary Craige with her husband, Jim Craige, and sons Liam and
ahead and in complete shock that I had
Gavin
breast cancer.

I was just 34 when I was diagnosed, and I immediately wanted to know why I had developed this
disease at such a young age. My personality is one that always wants to understand the "why"
things happen. My mother had been diagnosed with breast cancer in 1987 age 51, so I always knew
Search by keyword,
there was a chancetitle,
thatsubject areaone day deal with a similar diagnosis. I never thought I would be
I would
diagnosed with the(https://www.printfriendly.com)
disease in my early 30s. E-mail updates ▻
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What I didn't understand at the time was that I was being tested for mutations in the BRCA1 and


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BRCA2 genes, which are associated with breast and ovarian cancers. Together, BRCA1 and BRCA2
mutations account for about 20 to 25 percent of hereditary breast cancers
(http://www.cancer.gov/Common/PopUps/popDefinition.aspx?
id=CDR0000045983&version=Patient&language=English) and about 5 to 10 percent of all breast
cancers, according to the National Cancer Institute
(http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA) . Recently, BRCA has become associated
with celebrities like Angelina Jolie and the movement toward prophylactic mastectomy for women
who carry one of these mutations.

When my results came back, the test showed that I was BRCA1 and BRCA2 negative.

A "family tree" of cancer

When I met with my medical oncologist to discuss treatment options, one of the first things we
discussed was my family history of cancer. Although I was BRCA negative, my medical oncologist
still asked me to complete a family pedigree. For a cancer patient, that is a "family tree" of cancer.
After completing this exercise, what I found was surprising.

Over three generations, there was a lot of cancer in my family: breast, lung, colon and stomach.
Many of these cancers were found at young ages and were diagnosed in the later stages. When my
medical oncologist viewed my family history, she pushed for a full genetic panel. At the time, my
medical insurance only covered a small portion of the test. This would be another cost my husband
and I had to absorb. We already knew that our out of pocket expenses to fight this disease would be
high, even with decent insurance coverage.

The more I thought about it, the more I did not want to know what else was "wrong" with me. At
the time, I was overwhelmed with information and decisions. Other testing, called an OncotypeDX
(http://www.oncotypedx.com/) test, showed that I needed to undergo chemotherapy to give me
the best chances of survival at the five-year mark. Genetics were no longer on my radar. Getting
through the next eight months of chemotherapy and radiation was my focus.

Moving on by facing the facts

In January 2011, I was told I was cancer-free.

In early 2014, almost four years after I was diagnosed with breast cancer, I gave birth to my second
son, Gavin. While my focus after treatment had been to be healthy enough to have another baby
(https://www.elsevier.com/connect/archive/fertility-after-breast-cancer-a-personal-experience-with-
this-growing-trend), that focus soon changed to long term survivorship for my family. Around this
same time,
Search the media
by keyword, began area
title, subject reporting on "new" mutations in a gene called PALB2
(http://health.clevelandclinic.org/2014/08/know-palb2-breast-cancer-risk/) , which stands for
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 partner and localizer of BRCA2, the gene


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I was tested for 2010. While PALB2 was
not really "new," it was recently identified
as a susceptibility gene for familial
pancreatic cancer.

During my biannual visit with my

Mary Craige's sons, Liam and Gavin (Photo by Jim Craige)
oncologist in July, she again expressed
her desire to fully understand my genetic
background and to have me tested for
PALB2 and other mutations linked with
colon and other cancers. I agreed to
undergo this additional testing.

In August, I met with a genetics counselor and talked through each one of the cancers I knew of in
my family. We looked at the ages when family members had passed away and discussed what, if
any, potential new information could be gathered from these additional tests. We also discussed
the possibility of increased screening tests should a mutation be found and what the future would
look like for me, as well as my two boys.

The PALB2 tests are in

It has been two months since two vials of blood were drawn and shipped off to a lab in California.
Unfortunately, I still do not have the results. But what I do have is peace of mind in knowing that I
am doing as much as I can to ensure that I will be here for many more years. If I find out that I
carry a genetic mutation that predisposes me to a certain type of cancer, then I will ensure that the
proper screening is done each year and that I am vigilant in reporting any changes to my medical
oncologist. For example, should these genetic tests show that I have a predisposition for colon
cancer, I would begin screening earlier than 50 – the age recommended by the American Cancer
Society for people of average risk.

Medical science learns more and more each day about breast cancer. Unfortunately, we still don't
have a cure. But what we do have is information to help us make the best decisions about
treatment. Genetics is one piece of that information. Hopefully, this additional data will reassure
me that I will continue to survive and thrive for many years to come.

Test results
Mary
SearchCraige will reveal
by keyword, the results
title, subject area of her PALB2 test – and what they mean for her life – in a follow-
up story.
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Mary Craige's previous Elsevier Connect stories

• "Why I rode 200 miles for breast cancer research
(https://www.elsevier.com/connect/archive/why-i-rode-200-miles-for-breast-
cancer-research)"
• "Fertility after breast cancer: a personal experience with this growing trend
(https://www.elsevier.com/connect/archive/fertility-after-breast-cancer-a-
personal-experience-with-this-growing-trend)"

Elsevier Connect Contributor

Mary K. Craige (https://www.linkedin.com/pub/mary-craige/10/7ab/a2) is a
content marketing manager for LexisNexis Risk Solutions
(http://www.lexisnexis.com/risk) . In this role, she manages strategic
content marketing execution across all levels of planning, production,
distribution, socializing, and performance measurement for the Health
Care and Government business units.
Mary Craige

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