Bilateral vs Unilateral Mastectomy (Chek 2)

4girlsmom · August 2016

I have been diagnosed with high grade DCIS, IDC, ER/PR+ Her2-, with a high ki 67 score, and have the moderate risk Chek2 mutation. I was initially devoted to having only ULX because I did not want to give up the sexual feeling in my "healthy" breast but then wavered and scheduled a BMX after learning Chek2 mutation made my risk of contralateral BC 25%. I am scheduled for bilateral mastectomy with latissmus reconstruction in Sept but am having second thoughts. I live in a state with very high BMX, more so than in the rest of the country. i know no one who chose ULX. Do those of you who chose ULX still feel the breast sensation matters as much as it did pre-Tamoxifen, etc? I don't want to keep the breast only to find out sex is so different post tamoxifen that it didn't matter much after. If not for the sexual feeling I would go ahead and do BMX without much hesitation. Would love guidance. Thank you!

bikefam · August 2016

I had a umx. My cancer was non invasive and no family history, so dr felt there was no reason for a bmx. Unfortunately, the breast I had removed was the one that gave me more "satisfaction". But my husband was patient, and we have worked our way back to normal. I can't say tamoxifen affected that much. Menopause was also going on at the same time, so everything was wrapped up together. If you have reconstruction, it is easier to get symmetry with a bmx. If I had a high chance of reoccurance, I would go for a double.

BarredOwl · August 2016

Hi 4girlsmom:

Have you met with a Genetic Counselor to discuss your test results? Both the ASCO and NCCN strongly recommend pre- and post-test genetic counseling with a genetics counselor or other expert medical genetics professional, prior to taking action.

You mentioned you have "the moderate risk Chek2 mutation." You may already known this, of course, but it is a common area of misunderstanding. There are different types of mutations in the CHEK2 gene (they could be single base change, insertion, deletion/truncation, rearrangement), and they can have very different effects on risk profile. Mutations in a gene can be classified into three general groups:

(1) "pathogenic variants" (which are known to be harmful and confer added risk of certain types of cancer(s));

Among the various known CHEK2 pathogenic variants, different variants may confer differing degrees of added risk. Even with the same pathogenic CHEK2 variant, it appears that the added lifetime risks for carriers may vary depending family history of breast cancer in first- and second-degree relatives.

(2) "neutral variants or polymorphism" (which are not considered to confer added risk); and

(3) "variants of unknown significance" ("VUS", also, variants of uncertain significance) (which confer either (a) no added risk; or (b) some added risk of unknown magnitude, but it is not known whether (a) or (b) is the true situation, but the VUS might be harmless).

Do you know if the one you have is classified as a "pathogenic" mutation or is it another type, such as a neutral polymorphism or variant of unknown significance?

BarredOwl

4girlsmom · August 2016

I do have a pathogenic mutation- 1100 delC Thank you for your help!

BarredOwl · August 2016

Thanks for confirming.

By the way, MyriadPro (July, 2016) has a good introduction with bibliography, including a lot of information about (c.1100del). The document is intended to be read along with the NCCN guidelines included in the reference list, and is not a substitute for case-specific, expert advice from a Genetics Counselor or other expert medical genetics professional:

The link is not active for some reason. To reach the site, copy and paste the link into your browser, and hit return:

https://www.myriadpro.com/myrisk/myrisk-resource-guide-results/?gene=CHEK2&allele=1

Best,

BarredOwl

Bilateral vs Unilateral Mastectomy (Chek 2)

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