previvor

September 13, 2014 in family history, genetic research, medical history by Ami McKay

coming to terms with what lurks within your DNA

coming to terms with what lurks within your DNA

Previvor. Are you familiar with the word? Chances are if you’ve seen or heard it before, it’s been in reference to someone who carries one of the BRCA genes that predisposes them to breast and ovarian cancer. (Think Angelina Jolie.)

BUT the thing is, by it’s definition, the word previvor can and does apply to ALL those who carry a hereditary mutation that predisposes them to a specific type (or specific types) of cancer. For instance, if you’ve tested positive for the FAP mutation but haven’t had cancer, you’re a previvor. If you carry one of the genetic mutations for Lynch syndrome (like me,) but haven’t had cancer, you’re a previvor.

A little history lesson. 

How did the term “previvor” originate? According to FORCE (Facing Our Risk of Cancer Empowered- an organization that does an excellent job of raising awareness of hereditary breast and ovarian cancer) the word has an interesting origin, one I find quite fitting in our 21st century world of increased patient awareness and Googleized medicine.

“Cancer previvors” are individuals who are survivors of a predisposition to cancer but who haven’t had the disease. This group includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor. The cancer previvor term evolved from a challenge on the FORCE main message board by Jordan, a website regular, who posted, “I need a label!” As a result, the term cancer previvor was chosen to identify those living with risk. The term specifically applies to the portion of our community which has its own unique needs and concerns separate from the general population, but different from those already diagnosed with cancer.

The medical community uses the term “unaffected carrier” to describe those who have not had cancer but have a BRCA or other cancer-predisposing mutation. The term applies from a medical perspective, but doesn’t capture the experience of those who face an increased risk for cancer and the need to make medical management decisions. Although cancer previvors face some of the same fears as cancer survivors, undergoing similar tests and confronting similar medical management issues, they face a unique set of emotional, medical, and privacy concerns. – From Facingourrisk.org “Cancer previvors.”

I’ve heard of BRCA previvors, why haven’t I heard anything about their Lynch Syndrome counterparts?

Although I became aware of my family’s specific mutation for Lynch syndrome in the 1990’s and tested positive for MSH2 in 2001, I really didn’t think much about this question until quite recently. I suppose, like many who were among the earliest to be tested, I figured I was facing a situation that was rare, specific to my family, and nothing that would be of much interest to others. Also, at the time that I first learned of HNPCC (Lynch syndrome) and it’s place in my family tree, there was quite a lot of fear surrounding the issue, fear that raised loads of questions for anyone who was considering being tested. Could insurance companies drop you if you tested positive? Could your employer fire you? Was I better off not knowing? Even if I choose to have the testing done, should I keep the results under wraps?

Things have changed, right? There are laws to protect against genetic discrimination. So why don’t more people know about Lynch syndrome?

Were the genetic mutations for BRCA discovered first? Nope.

The DNA research for a genetic mutation responsible for HNPCC (Hereditary Non-polyposis Colorectal Cancer) or what would come to be called Lynch Syndrome was happening at about the same time as the research for BRCA (although the international race to find the BRCA gene was far more publicized.) In fact, the Lynch syndrome gene that’s in my family tree, MSH2, was discovered in 1993. BRCA1 and BRCA2 were confirmed in 1994 and 1995 respectively. (And if you’d like to tuck a little more hereditary cancer research trivia away in your brain, the APC gene reposonsible for FAP (familial adenomatous polyposis) a condition that leads to developing numerous polyps mainly in the large intestine, was isolated in 1991.)

Surely BRCA is more prevalent? Nope. 

The facts are these: “Many people, including doctors, think that Lynch syndrome is rare. It’s just as common in the general population as the much more known BRCA genes associated with hereditary breast cancer. One in four hundred (1/400) Americans is walking around with a Lynch syndrome mutation, whether they know it or not.”  – Dr. Larry Geier M.D. genetic oncologist at the University of Kansas Cancer Center.

Why do we find it easier to talk about breast cancer than colorectal cancer? Boobs trump poop, every time. 

I’m being a bit cheeky (see what I did there?) but you know I’m right. Right? Until we get over our queasy, adolescent willies when it comes to talking about our bowels, then people (strangers, friends, family and loved ones) will continue to suffer (and die) because they’re too embarrassed to admit they have “trouble in the deeps” or blood in their stool. I grew up with a grandmother who was absolutely shameless when it came to asking family members if they’d “had a good b.m. today?” She didn’t care how it sounded to others or if it caused offence. Long before genetic tests and the word “previvor” she knew that talking about your poop could mean the difference between life and death.

Lynch syndrome only involves colon cancer? Not by a long shot!

Colorectal and endometrial are the two cancers most frequently associated with LS, but other associated cancers include, stomach, bladder, heptobiliary, small intestine, ovarian and brain. Research is currently being done to see if certain types of breast cancer are also associated with it.

have you had a good bm today?

have you had a good bm today?

Here’s the deal…

I know I’ve made a lot of comparisons between BRCA previvors and Lynch syndrome previvors in this post. It’s not to favour one over the other, but to simply make a point, that we’re at a crossroads when it comes to medical science and health care, and we need to increase awareness of ALL hereditary cancers. As researchers move forward with their work, more genes will be discovered, more lives will be touched, more humans will be added to the list of “previvors” and thus given the chance to participate in the course of their care.

All previvors have similar concerns. We have screenings to schedule (for Lynchies that includes colonoscopies, blood tests, endometrial biopsies, transvaginal ultrasounds, and ultrasound of the bladder and upper urinary tract as well as urinary cytology.) We have prophylactic surgeries to consider (for those with LS its sub-total colectomy and, if you’re a woman, hysterectomy.) We have family histories to uncover, children to worry over, and an ever-present list of symptoms to track.

If you’re new to my blog, or to Lynch syndrome (or you’re looking for a way to explain it to others,) this video featuring the aforementioned Dr. Larry Geier, gives an excellent overview of what it is and what to look for when tracing a history of colorectal cancer in your family.

Thanks for reading, and boldly go!

People and places and resources related to this post.

FORCE (for Hereditary Breast and Ovarian Cancer support)

FAP Gene support group

Fight Colorectal Cancer’s Lynch syndrome primer (could it be in your family tree?)

LSI (Lynch Syndrome International)