2024-07-22 14:23:40
If you have a gBRCA mutation, your risk of breast cancer is 35-49% by age 70.
One of the major risk factors for developing cancer is heredity. Genetic mutations can be germline or somatic. If germline, they are passed on to offspring and replicated in every cell of the body.
Hereditary cancer is caused by mutations in some germline genes. In particular, in the case of breast cancer, hereditary breast cancer accounts for 5-10% of all breast cancers. In 2021, the number of breast cancer patients in Korea was 28,720, and of these, approximately 1,436 to 2,872 were hereditary breast cancers.
According to a study on hereditary breast cancer in Korea, the proportion of genetic mutations found among 1,967 high-risk breast cancer patients in Korea was 21.7% in those with a family history of breast cancer or ovarian cancer, 10% in breast cancer patients under the age of 35, and 17.7% in bilateral breast cancer patients.
Diagnosing genetic mutations through genetic testing is important
The genes that account for the largest proportion of hereditary breast cancer are the BRCA1 and BRCA2 genes. The gBRCA gene helps repair damaged DNA and stabilize the genetic material of cells, but if this gene is mutated, the damaged DNA cannot be repaired, greatly increasing the risk of cancer.
It is generally known that the incidence of breast cancer increases by about 3 times if there is a gBRCA mutation. According to the KOHBRA study, the risk of Korean women developing breast cancer by the age of 70 was predicted to be 49% if they had a gBRCA1 mutation and 35% if they had a gBRCA2 mutation. If you are a breast cancer patient with a family history of breast cancer, ovarian cancer, or prostate cancer, genetic testing is essential not only for the patient but also for the management and prevention of cancer in your family members who have not been diagnosed with cancer. Accordingly, the 10th Korean Breast Cancer Treatment Recommendation published by the Korean Breast Cancer Society also recommends BRCA genetic testing for high-risk groups with a high probability of having a gBRCA mutation, and in the case of patients with confirmed gBRCA mutations, their family members are also subject to gBRCA mutation testing.
Treatment Improves Overall Survival in Aggressive gBRCA Mutant Breast Cancer Patients
Breast cancer with gBRCA mutations generally has aggressive disease characteristics. In Korea, breast cancer mainly occurs in relatively young people under the age of 50, but if you are a gBRCA mutation carrier, you can get cancer at an even younger age. It occurs at an age of about 20 years earlier than all breast cancers, and in fact, 73% of stage 1-3 breast cancers with gBRCA mutations occurred in young women under the age of 45. In addition, research results show that the risk of metastasis to the contralateral breast is about 3.5 times higher than general breast cancer, and the brain metastasis rate is also high, so it is important to know whether you have a BRCA gene mutation in order to set an effective treatment strategy.
The representative gBRCA genetic test used in Korea is the base sequence analysis test. This genetic test provides the basis for judgment related to the use of platinum-based neoadjuvant chemotherapy and plays an important role in determining the direction of treatment and surgery by providing information on risky surgical decisions such as mastectomy. In addition, the base sequence analysis test helps predict the responsiveness of PARP inhibitors in breast cancer with gBRCA gene mutations, so BRCA gene testing is necessary to select the optimal treatment based on the genetic characteristics of each patient. In cases where the conditions for gBRCA gene testing are not met, the presence of gBRCA mutations can also be confirmed through next-generation sequencing (NGS) testing.
In the recently updated ESMO early breast cancer clinical guidelines for Asians, olaparib (brand name: Lynparza) is the only PARP inhibitor recommended at a high level. Olaparib is the first and only PARP inhibitor to demonstrate improvement in overall survival, especially in patients with HER2-negative breast cancer with gBRCA mutations. Adjuvant therapy after surgery with olaparib reduced the risk of death by 32% compared to placebo during a median follow-up period of 3.5 years, and at 3 years, the olaparib group had more patients free of invasive breast cancer recurrence than the placebo group. This is significant in that it gave patients hope that they could return to their daily lives without recurrence. In addition, 4-year invasive disease-free survival and remote disease-free survival were also significantly improved compared to the placebo group.
However, even though there are effective treatments that have proven to improve overall survival, it is difficult to receive treatment benefits if genetic testing is not performed first. Currently, in Korea, genetic testing is covered in the following cases: △ If breast cancer is diagnosed and one or more family members or relatives (within the third degree) of the patient have breast cancer, ovarian cancer, male breast cancer, metastatic prostate cancer, or pancreatic cancer; △ If breast cancer is diagnosed at age 40 or younger; △ If triple-negative breast cancer is diagnosed at age 60 or younger; and △ If bilateral breast cancer is diagnosed. This is stricter than the global guideline that recommends gBRCA testing for patients under 50 years of age or all ages.
Daelim St. Mary’s Hospital Director Kim Seong-won said, “gBRCA mutation is a risk factor that increases the development of breast cancer, but since there are treatments that have proven the overall survival period in gBRCA-mutated early breast cancer, such as PARP inhibitors, treatment aimed at complete recovery is possible. To do so, genetic testing through base sequence analysis or next-generation sequencing (NGS) must be conducted in advance.” He added, “In this way, genetic testing plays an important role in cancer treatment beyond simple diagnosis. Therefore, if you are eligible for gBRCA testing benefits, please do not hesitate to get tested. In particular, BRCA benefits are also available if there are breast cancer, ovarian cancer, male breast cancer, metastatic prostate cancer, or pancreatic cancer in your family and relatives (within the third degree (4th degree)), so it is important for breast cancer patients to check their family history of cancer.”
Reporter Cho Seon-hee [email protected]
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2024-07-22 14:23:40