ASCO and SSO Update Genetic Testing Guidelines for People With Breast Cancer
The American Society of Clinical Oncology (ASCO) and the Society of Surgical Oncology (SSO) updated their germline genetic testing recommendations for people diagnosed with breast cancer, which now say that anyone newly diagnosed with breast cancer age 65 or younger should be offered BRCA1 and BRCA2 testing.
The updated guidelines were published in the Jan. 4, 2024, issue of the Journal of Clinical Oncology. Read “Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline.”
What is germline genetic testing?
Genes are short segments of DNA (deoxyribonucleic acid) found in chromosomes. DNA contains the instructions for building proteins. Proteins control the structure and function of all the cells that make up your body.
There are two types of DNA changes: those that are inherited and those that happen over time and are not inherited. Inherited DNA changes are passed down from parent to child. Inherited DNA changes are called germline mutations.
DNA changes that happen over the course of a lifetime — as a result of the natural aging process or exposure to chemicals in the environment — are called somatic mutations.
Germline genetic testing looks for inherited mutations that are known to raise the risk of breast cancer, such as mutations in the BRCA1, BRCA2, PALB2, PTEN, and TP53 genes.
About the guidelines
The updated guidelines were developed by an expert panel that reviewed research that had been published since 2015, when the guidelines were last updated.
There were 14 updates to the guidelines.
1. All people newly diagnosed with stage I to stage III or de novo stage IV breast cancer who are age 65 or younger when diagnosed should be offered genetic testing for BRCA1 and BRCA2 mutations. De novo stage IV breast cancer is breast cancer that is metastatic when first diagnosed.
2. All people newly diagnosed with stage I to stage III or de novo stage IV breast cancer who are older than 65 should be offered BRCA1 and BRCA2 testing if:
the breast cancer could be treated with a PARP inhibitor, such as Talzenna (chemical name: talazoparib) or Lynparza (chemical name: olaparib)
they’ve been diagnosed with triple-negative breast cancer
personal or family history suggests a mutation linked to breast cancer risk runs in the family
they were assigned male sex at birth
they are of Ashkenazi Jewish (northern and eastern European Jewish) ancestry or are members of another population that is known to have founder mutations
A founder mutation is a specific gene mutation in a population that was founded by a small group of ancestors who were isolated either geographically (for example, on an island or in a mountainous area) or culturally (for example, because of religion or language) for hundreds of years or more. When a population is isolated, the rate of some mutations in descendants ends up being much higher than it would be if the population had been larger and had intermingled with more genetically diverse people.
3. People who have BRCA1 and BRCA2 mutation testing should be offered testing for other genetic mutations linked to cancer based on their personal and family history. People should have the opportunity to meet with a healthcare provider with cancer genetics experience to help them make decisions.
4. Anyone diagnosed with recurrent breast cancer — breast cancer that comes back after treatment is completed — that could be treated with a PARP inhibitor should be offered BRCA1 and BRCA2 testing, regardless of their family history.
5. People diagnosed with a second primary breast cancer, in either the same or the opposite breast, should be offered BRCA1 and BRCA2 testing.
6. Everyone with a personal history of breast cancer diagnosed when they were age 65 or younger without active disease should be offered BRCA1 and BRCA2 testing if the results will help them manage their personal cancer risk or help with family risk assessment.
7. Everyone with a personal history of breast cancer diagnosed when they were older than 65 without active disease should be offered BRCA1 and BRCA2 testing if the results will help them manage their personal cancer risk or help with family risk assessment if they meet the following criteria:
personal or family history suggests a mutation linked to breast cancer risk runs in the family
they were assigned male sex at birth
they were diagnosed with triple-negative breast cancer
they are of Ashkenazi Jewish ancestry or are members of another population that is known to have founder mutations
8. If appropriate, people diagnosed with breast cancer also should be tested for mutations in the PALB2, TP53, PTEN, STK11, and CDH1 genes because the results can help them make treatment decisions, help doctors estimate the risk of a second primary breast cancer, and help with family risk assessment.
9. If appropriate, people diagnosed with breast cancer also should be tested for less common genetic mutations that increase the risk of breast cancer, such as mutations in the ATM, CHEK2, and NBN genes. While the results don’t help make treatment decisions, they can help doctors estimate the risk of a second primary breast cancer and help with family risk assessment.
10. If a person is having panel genetic testing, which looks for mutations in multiple genes, the panel should take into account personal and family history. People should be able to meet with a healthcare provider with cancer genetics experience who can help select the specific panel and interpret the results.
11. Doctors or genetic counselors should give people who are having genetic testing enough information before the testing so they can provide informed consent.
12. If a person’s results show they have a mutation linked to breast cancer, doctors should provide individualized genetic counseling and offer them a referral to a healthcare provider with cancer genetics experience.
13. Doctors should explain that mutations classified as variants of uncertain or unknown significance are genetic mutations that haven’t been linked to breast cancer or another disease, and explain that these variants may someday be reclassified as harmful mutations as more research is done. Doctors need to emphasize that periodic follow-up is needed. A healthcare provider with cancer genetics experience can help explain this.
14. People whose results show they have no mutations linked to breast cancer or variants of uncertain significance may still benefit from meeting with a genetic counselor or other healthcare provider with cancer genetics experience if they have a strong family history of cancer.
What this means for you
These updated recommendations are more in line with National Comprehensive Cancer Network (NCCN) genetic testing guidelines, which, among other criteria, recommend genetic testing for someone diagnosed with breast cancer if:
there is a known mutation in the family
the person was diagnosed at age 50 or younger
the person has been diagnosed with two primary breast cancers
a first-degree female relative (mother, sister) was diagnosed with breast cancer at age 50 or younger or was diagnosed with ovarian cancer
two or more first-degree relatives were diagnosed with breast, prostate, and/or pancreatic cancer
a man in the family has been diagnosed with breast cancer
If you’ve been diagnosed with breast cancer, you may want to talk to your doctor or a licensed certified genetic counselor about your diagnosis and your family history and ask if having a panel test makes sense for you. A licensed certified genetic counselor or your doctor can help you understand the test, accurately interpret the results, and decide if they affect your treatment plan.
— Last updated on August 30, 2024 at 4:37 PM