CHEK2 & MSH6 positive

AustinHusband

My wife is 34 and just tested positive for CHEK2 and MSH6 genes. Her GP broke the news to her yesterday and opened with “you should consider a double mastectomy and removing both of your ovaries”. Needless to say she’s taking the news pretty hard and doesn’t even know where to start.

I’m trying to help her figure out where to start/ the best next steps. Can anyone with a similar diagnosis recommend some good resources? Right now we’re lost and overwhelmed.

Mominator

Welcome to BCO!

Has your wife spoken with a genetic counselor? There are more than 2 dozen genes associated with an increased risk of breast cancer. However, it is important to note that the genes have different increased risk percentages, different associated cancers, and the various cancers occur at different ages.

By the way, we all have all of these genes. What your wife tested positive for was a "deleterious mutation" on those genes, which increases her risk for certain cancers. I'm going to post a chart in my next post.

It may be enough to have increased surveillance now, and then consider having the mastectomy and oophorectomy surgeries after child-bearing years and closer to her natural menopausal years.

Another pre-menopausal, BRCA2 member (sorry I don't remember who) recently reported that she was having double mastectomy but only one ovary (and both Fallopian tubes) removed. BRCA2 often presents ovarian cancer right around menopause, and often with BRCA2 patients, the cancer starts in the Fallopian tubes. Note that ovaries and Fallopian tubes come from the same stem cells. Her surgery would be reducing her chance of ovarian cancer by about 75%, while allowing her to go into a more gradual menopause, rather than sudden surgical menopause.

You can also research the genes on the genetic testing websites.

Best wishes,

Mominator

Mominator

AustinHusband, here is the chart I promised. This is about 4 years old. There are about 30 genes now associated with breast cancer.

You can learn more at myriad.com

LongArms

I’m MSH6 positive and I’m 42. The MSH6 diagnosis was extremely hard for me. Research says it gets better around 6 months. It has been 6 months for me and it has gotten better for me. I did have prophylactic surgery. I recommend waiting until the emotions stabilize a little bit, so that she can make well informed decisions.