Promoting and applying the multiple gene detection

The 21th National Comprehensive Cancer Network (NCCN) Annual Conference was hold from March 31-April 2 in 2016 in Hollywood. The conference added several new gene mutation detection for the hereditary risk management of breast and ovarian cancer.

Recent studies have found PALB2 gene mutation associated with breast cancer invasiveness, and RAD51C, RAD51D, BRIP1 gene mutations increase the lifetime risk of ovarian cancer. Dr. Tuya Pal American Cancer Research Center in Moffett said, "In the past year, more and more data indicate that these new genes are associated with ovarian cancer risk. Salpingo oophorectomy recommended or considered by NCCN guidelines in the past which reduce risk are greatly limited by BRCA1、BRCA2 and Lynch syndrome."

She said, "With the presence of BRCA1 gene mutation, the lifetime risk of ovarian cancer reaches 44%; With the BRCA2 gene mutation, the risk reaches 27%; with Lynch syndrome, the estimated risk reaches about 10%. Based on the current multiple studies, we believe that the evidence of which is similar to BRCA1, BRCA2 shows that the mutations of BRIP1, RAD51C and RAD51D increase the risk of ovarian cancer."

Dr. Pal noted, NCCN guidelines do not incorporate these new mutations as tubal oophorectomy recommended indications. She said, "This is a recommendation that can be considered, but we can discuss it and I will not therefore strongly recommend salpingo-oophorectomy, but the situation should be to communicate with patients if their bodies have these mutations, then. prophylactic oophorectomy is a reasonable choice "have a family history of ovarian cancer population should understand this information, Dr. Pal added:." family history is an important reference, if we find a strong risk family history of ovarian cancer, it should be based on new mutations recommended preventive cancer risk control. "Given the current ovarian cancer are not better screening methods, gene mutation is particularly important.

PALB2 has become a high-risk breast cancer gene mutations in one, and other related genes in breast cancer risk as well as BRCA1, BRCA2, PTEN and PT53. When To reduce the risk of cancer and prophylactic removal of the breast, to refer to these genetic changes.

The risk of breast cancer PALB2 mutations female life is about 35-40%. Studies have shown that breast cancer gene mutation associated PALB2 aggressive form. "If individuals carrying BRCA1 mutations develop into breast cancer, perhaps no big deal, because the vast majority of patients are diagnosed early. But when accompanied PALB2 mutation, in view of such strong invasiveness of cancer patients, and therefore need to carefully consider whether to take prophylactic mastectomy. "said Dr. Pal.

Genetic testing for breast cancer treatment has important significance. Once diagnosed with breast cancer patients by detecting understand their genetic predisposition, and accordingly decide what kind of treatment. If the tumor is detected before the genetic risk of breast or ovarian cancer can be proactive and prevent these cancers.

With the popularization and application of multi-gene detection, the gene diagnosis in the field of breast cancer has undergone many changes. But the development of technology can't change the role of the physician. The reasonable and appropriate interpretation of test results is essential. The physician should fully inform the patient whether it is positive or negative results, and the significance of these results for cancer management should be fully explained.

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