Genetic Testing

enneprw

I have recently been diagnosed with IDC, 1.6cm, no evidence of nodal involvement to this point, but I know that pathology following sx will be needed. Surgery scheduled for 10/20, so I am in the waiting stage... My MD did not offer or talk about genetic testing, is this something I should consider or ask about? Thank you!

Moderators

Hi enneprw, and welcome to Breastcancer.org,

We're sorry you find yourself here, but really glad you found us! You're sure to find our Community a valuable source of support, information, and advice.

Others will surely be by soon to offer their thoughts. In the meantime, can you tell us if you have family history of breast or ovarian cancer? If you don't have a strong family history of a first-degree relative (mother/sister/daughter), then it's likely your doctor wouldn't suspect a genetic mutation and that may be why genetic testing wasn't offered. Tell us some more about why you suspect genetic testing might be something you should look into.

We look forward to hearing more from you soon!

--The Mods

enneprw

Thank you for your response. I do not have a family history (first degree) of breast or ovarian cancer. This must be why it was not offerred. Thank you!

BarredOwl

Please note that he Moderators and members here (like me) have no medical or medical genetics training. The above reply does not consider the many other possible factors that may lead one to consider a referral to a genetics professional (e.g., genetic counselor) for a genetic/ familial risk assessment under current guidelines from the National Comprehensive Cancer Network (NCCN).

As best practice, one should seek advice on this question and not assume anything.

Sadly, many providers lack relevant training, familiarity with guidelines, and/or simply neglect to consider the question of a possible genetic component, and so fail to properly advise patients who are appropriate candidates for referral. See for example,

Childers (2017), "National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer"

http://ascopubs.org/doi/full/10.1200/JCO.2017.73.6314

Many other types of familial cancers besides breast and ovarian may raise some suspicion of a genetic predisposition to cancer (e.g., Fallopian tube cancer, peritoneal cancer, pancreatic cancer, male breast cancer, melanoma, colon cancer, and many other types of cancers or syndromes).

In addition, certain populations carry increased risk of carrying genetic mutations. For example, "An individual of Ashkenazi Jewish descent with breast, ovarian, or pancreatic cancer at any age" is another criterion under NCCN guidelines.

Particular features of personal breast cancer diagnosis that may lead to a referral include for example:

- Early-age-onset breast cancer (age ≤50 years old) (DCIS or invasive breast cancer)

OR

- Triple negative (ER-, PR-, HER2-) breast cancer diagnosed ≤60 year of age

OR

- Two breast cancer primaries in a single individual (where two breast cancer primaries includes bilateral (contralateral) disease or two or more clearly separate ipsilateral primary tumors either diagnosed synchronously or asynchronously)

OR

- OTHER THINGS

While guidelines are not a substitute for case-specific advice from a medical professional, in order to better inform inquiries with your team and help you share pertinent personal and family history, you may wish to consult the NCCN guidelines for "Genetic/Familial High-Risk Assessment: Breast and Ovarian." The guidelines are available here at no cost with free registration:"

https://www.nccn.org/store/login/login.aspx?ReturnURL=https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf

See Chart BR/OV-1 on pdf page 6 for a list of factors that may lead to consideration of a referral for genetic/familial assessment. (The question of whether such a person is a candidate for genetic testing is a separate question).

Best,

BarredOwl

enneprw

Thank you!

Jennifer522

I am getting genetic testing in another month. I am 45 and triple negative.

No family history of cancer. Only diabetes, stroke and high blood pressure. So the cancer dx was a shock!

I have a 5 year old daughter, so knowing if I have the gene is very important to me for her sajw