Thank you for sharing. I'm so sorry! My mother's side is where this came from. There's generational breast cancer, Colon cancer & thyroid cancer that runs rapid in that side of family. But my dad's mom had bc at age 90 & had breast removed with no treatment & lived to be 106! And my dad had prostate cancer in '92 & beat it but in 2014 was diagnosed with stage 3 brain cancer & died in '2017.
I've lost many people in my family to bc & thyroid & colon cancer. Not many left to ask questions to. But al of us cousins have been tested & out of 8 cousins, 4 have the chek2 gene.
Good luck to you. I pray we can all find the right Dr's to help us make the best decision for our health!! It's frustrating when my Drs say - We don't know or have that much information on it cause it's so rare!! So they just tell me to do surgery after surgery taking out organs. I'm definitely tired!!
And I have hysterectomy coming up in October to look forward to with out estrogen replacement! Ugh. I will be soon doing the Radioiodine treatment from my thyroid cancer & NOT looking forward to it. My Oncologist suggested I do it but my Endocrinologist doesn't want to due to the risk of others cancer popping up from it. Ugh... Frustrating!! I can't go to Mayo due to my insurance, so my oncologist is sending my medical records up there to them to get advice on what to do. I see him next month for those results. Crossing fingers I get some news back!!
Thank you again for sharing. Blessings to you and your family.

@silentfaith -- It sounds like your family has been hit hard with cancer just like mine has and the families of so many others. So many in your family have the CHEK2 mutation because it's hereditary. It's definitely common within certain families. It's no fun knowing you and your loved ones have an increased risk for multiple cancers.

As for the CHEK2 mutation being rare, the official definition of rare is not what many of us would think of when we hear rare. In the US, a rare disorder means a disease that affects less than 200,000 people in the US at any given time. That seems like a lot to me, but not in comparison to something where millions have it. Research dollars go to the common diseases/disorders. There are over 200,000 primary care physicians in the US so that means any given one may never have seen or heard of the CHEK2 mutation so it's certainly rare to them and that's not so helpful to us.

CHEK2 - about 1 in 333 - 500 in US (people of Eastern/Northern European descent are 1 in 100-200)
BRCA1/2 - about in in 300 - 800 in US

For some perspective, here are some other definitions:

Very common - 1 in 10 people (10%)
Common - 1 in 10-100 (1% - 10%)
Uncommon - 1 in 100-1,000 (0.1% - 1%) CHEK2 and BRCA1/2
Rare - 1 in 1,000-10,000 (0.01% - 0.1%)
Ultra rare - 1 in 50,000 fewer than 20 per million, many affect 1 in a million or less

*Statistics may vary by source (and by US vs. other countries/world)

There are thousands of rare diseases and about 10% of the US population has a rare disorder. So, ironically, it's not rare to have a rare disorder. Some disorders are worse than others, of course, but everyone has their own battles. I have CHEK2, BRCA2, HNPP (rare/ultra rare), Lung NETS (rare 1 in 20,000) and DIPNECH (ultra rare only about 200 documented cases, but thought to be under-diagnosed). My son has the first three listed. If we took more genetic tests, would we have more? Maybe. The silver lining is that at least the genetic tests let us know where we need to focus. As I'm sure you all do, we also have lots of common disorders that aren't any fun either.

You know the old humor about someone assembling something and when they are done there are a few parts left over? Ruh-roh. Sometimes, I think maybe a few of the nuts and bolts were left behind when I was assembled. We count on our medical teams to provide us with some of the spare parts we need for stability. 🙂 Best to all of you.