Latest ASCO Guidelines for Hereditary Breast Cancer

On average, an individual with a BRCA1 or BRCA2 gene mutation has up to a 7 in 10 chance of getting breast cancer by 80 years of age. 

The inclusion of genomics into the world of oncology has led to an increasing population of patients with breast cancer being identified with inherited mutations in breast cancer susceptibility genes. This has led to requiring breast cancer specialists to integrate & utilize this information in all breast cancer decision-making.

There are many available guidelines addressed by specialists to manage breast cancer risk. However, guidelines for managing or understanding the risk of mutation carriers are limited. The latest ASCO guidelines take care of that.

ASCO guidelines for hereditary breast cancer unveiled

• If a person has a BRCA1 or BRCA2 mutation, it does not mean they can’t have a lumpectomy. 

• Individuals who have any of the genetic mutations related to breast cancer are at a much higher risk of being diagnosed with new breast cancer in the opposite breast. Therefore, it is advised that breast cancer specialists should consider whether contralateral prophylactic mastectomy i.e., removing the other healthy breast, is a good option for reducing the risk or not, especially for younger women. 

• Individuals with a BRCA1 or BRCA2 mutation, who have not had a double mastectomy, are advised to have regular screening with both an annual mammogram and an annual MRI. In most cases, breast cancer specialists suggest people have one screening and then the other one 6 months later. 

• According to specialists, women with a mutation in the ATM, CDH1, CHEK2, NBN, NF1, or STK11 genes are eligible for a lumpectomy. With these women, doctors should discuss the specific risk of breast cancer in the opposite breast based on the genetic mutations. 

• For women who have a mutation in the ATM, CDH1, CHEK2, NBN, NF1, or STK11 genes, who’ve not had a double mastectomy, it is advised that they have regular screening with both an annual mammogram as well as an annual MRI. After one screening, the next one should be done 6 months later. 

• A nipple-sparing mastectomy is a reasonable option for women with genetic mutations linked to breast cancer. 

• Except for women with a TP53 mutation, radiation therapy after either lumpectomy or mastectomy should not be withheld because of the genetic mutation status. According to recent research, radiation therapy dramatically increases the risk of a second cancer in individuals with a TP53 mutation. Therefore, people with a TP53 mutation should have a mastectomy instead of a lumpectomy. 

• In the cases of people with a BRCA1 or BRCA2 mutation, who have been recently diagnosed with metastatic breast cancer, platinum chemotherapy is always preferred over taxane chemotherapy except in cases where the individual has been treated with platinum chemotherapy before. Carboplatin is the one and only platinum chemotherapy approved to treat breast cancer. On the other hand, Abraxane, Taxol, & Taxotere are the only taxane chemotherapy medicines used to treat breast cancer. 
• For individuals with either a BRCA1 or BRCA2 mutation who have been diagnosed with non-metastatic breast cancer, if they will be treated with chemotherapy before surgery, research does not support the addition of platinum chemotherapy to taxane-based as well as anthracycline-based chemotherapy. Adriamycin is a very well-known and suggested anthracycline chemotherapy.

• Instead of chemotherapy, people with a BRCA1 or BRCA2 mutation diagnosed with metastatic HER2-negative breast cancer should be treated with either Lynparza or Talzenna.

What do the new guidelines mean for you?

Whether you’ve been diagnosed with breast cancer recently or previously, if you know you have a breast cancer-related genetic mutation, you are at a higher risk of breast cancer. So, the first and foremost step is to talk to a breast cancer specialist because it can affect your life or treatment plans. 

Recent research by specialists suggests that many people with genetic mutations linked to breast cancer are not getting genetic testing because they do not meet the national testing guidelines. However, in February 2019, the American Society of Breast Surgeons had issued guidelines suggesting that genetic testing should be made easily available for people diagnosed with breast cancer. 

With a recent breast cancer diagnosis, one might want to talk to a cancer doctor or licensed & certified genetic counselor about the diagnosis and their family history to understand whether a multigene panel test makes sense for them. A specialist or a genetic counselor can help you understand whether you need the test, what the test means, and accurately interpret the results. 

Epilogue

The ASCO guidelines explained in this blog can help cancer patients, people with cancer-linked genes, and cancer doctors navigate the diagnosis & treatment of breast cancer. If you need any more information or support or are looking for the best breast cancer treatment in Noida, Delhi, or pan India, you can always consult an expert like Dr. Manish Singhal, a top breast cancer doctor in Delhi NCR.