How to interpret repeated negative breast cancer tests?

Question

Hello doctor,

I am a 52-year-old woman who has developed two different primary cancers of the breast, which have really messed up my head. What I find very confusing is that I have undergone several negative tests for genetic causes, yet the cancers continue to occur. I am actually relieved that there was nothing genetic, but there is always this little voice in my head asking what if?

How is repeated negative genetic testing following multiple primary breast cancers interpreted?
Is there a decreased risk following negative genetic testing?

Please help.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

Thank you so much for sharing your query with me.

I completely understand the amount of fear and concern you are carrying because developing two separate primary breast cancers is considered a very rare condition. But let me reassure you that rare cases do not necessarily have to be caused by inherited genetics, meaning it is not required that there was a family history of breast cancer or that a known genetic mutation was found in order for breast cancer to occur.

The development of breast cancer is not related to only one or two genes but rather to thousands of genes connected to the DNA (deoxyribonucleic acid) and the biological makeup of every individual.

Some of these genes are inherited from parents, while others can develop as entirely new changes without any previous hereditary background. And in some cases, the mutations that lead to breast cancer are sporadic mutations, meaning they happen randomly and are not inherited and do not necessarily repeat within the family.

So this does not automatically mean that your children will develop the same disease or that the cancer runs in the family; therefore, rare situations like yours do not have to be associated with a detectable genetic mutation or a hereditary cancer syndrome because not all cancers are hereditary, and some are caused by new spontaneous genetic mutations.

I hope this explanation helped clarify the idea for you, and I would recommend discussing whether more advanced or targeted genetic testing could still be helpful in your case.

Please let me know if you have any more questions on your mind.

I would be happy to guide you.

Thank you.