64 yr old female tested positive for CHEK2

Tumbleweed77

Now what do I do?

Feeling Lost.....

Hopeful82014

You should have been referred to a genetic counselor prior to testing - and that counselor should be available to sit down with you now that you have your results and help you understand what your results mean in terms of risk and future screenings, etc. Recommendations can vary depending on your family history, age and current health situation so don't rely on what you read on-line. If you don't have a genetic counselor, ask your MD for a referral and be persistent! Good luck.

BarredOwl

Hi Tumbleweed77:

Have you ever been diagnosed with breast cancer? (I ask, because this Forum is for people recently diagnosed with breast cancer, although that is not really clear from the Forum description.)

In any case (even if currently healthy), with a "positive" test result for CHEK2, if you don't have a Genetic Counselor or other medical genetics professional to advise you, then I also strongly recommend that you seek a referral to one for case-specific professional advice about the implications of your genetic test result on your risk profile and clinical management.

Some points of discussion may include things like:

-- What is and is not known about the specific mutation you have, whether and to what extent is it known to increase risks of various cancers in carriers in general.

-- More personalized estimates of your lifetime risks for certain cancers (e.g., breast, colon) in light of the specific type of CHEK2 mutation found and your personal medical and family history, which may modulate individual risk profile.

-- Information regarding clinical management of patients like you (with your risk profile), including what applicable current clinical consensus guidelines provide in the general case, as well as more personalized recommendations for your clinical management. This will help you to understand how patients are usually managed, and what options are considered to be suitable in your case (e.g., the recommended frequency and modality of cancer screening, or other options if applicable).

-- Possible implications for family members.

Best,

BarredOwl