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NCCN Guidelines for Patients



Breast Cancer – Metastatic (STAGE IV), Version 2.2017


Treatment planning

Genetic counseling



Genetic counseling

If you may have hereditary breast cancer, your doctor

will refer you for genetic counseling. Most breast

cancers are not hereditary. A genetic counselor is an

expert in gene mutations that are related to disease.

The counselor can tell you more about your chances

of having hereditary breast cancer. He or she may

suggest that you undergo genetic testing. Genetic

testing assesses for gene mutations that increase the

chances of getting breast cancer.

Hereditary breast cancer is most often caused by

mutations in the




genes. Normal


genes help to prevent tumor growth by fixing

damaged cells and helping cells grow normally.

Genetic testing can tell if you have a BRCA or

another mutation. Your test results may be used to

guide treatment planning.

Some mutations, called VUS (


ariants of




ignificance), are not fully understood by doctors.

Your doctors may know of research that aims to learn

more. If interested, ask your doctors about taking

part in such research.




A medical history is a report of all health events

in your lifetime. It will include questions about

your family’s health to help assess if you have

hereditary breast cancer.



Your doctor will examine your body for signs of

disease. He or she will touch parts of your body,

including your breasts, to see if anything feels




Blood tests may be done to look for signs of

cancer outside of your breast.



Imaging tests make pictures of the insides of

your body. Your doctor will be able see inside

your body without cutting into it.



During a biopsy, tissue or fluid samples are

removed for testing. Samples are needed to

confirm the presence of cancer and to perform

cancer cell tests.



Some breast cancers consist of cells with too

many hormone receptors, HER2s, or both.

These features are used to plan treatment.



Genetic counseling may help you decide

whether to be tested for hereditary breast


Waiting for results is often the

hardest part of this journey. I am

an overachiever when it comes

to thinking about worse case

scenarios when I don’t have all the