Robson Mark E
Clinical Genetics and Breast Cancer Medicine Services, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA.
Semin Oncol. 2007 Oct;34(5):384-91. doi: 10.1053/j.seminoncol.2007.07.011.
Mutations in BRCA1 and BRCA2 are well-established causes of hereditary breast cancer. As genetic testing becomes more widespread, increasing numbers of women are known to have mutations at or shortly after their breast cancer diagnosis. Current evidence is insufficient to mandate different local or systemic treatment based upon the presence of a germline mutation. The well-documented increased risk of contralateral second primary breast cancer and possibly of late ipsilateral second primary breast cancers may influence patient decision-making with regard to breast-conserving treatment.
BRCA1和BRCA2基因的突变是遗传性乳腺癌的公认病因。随着基因检测的日益普及,越来越多的女性在乳腺癌诊断时或诊断后不久被发现存在基因突变。目前的证据不足以要求根据种系突变的存在采取不同的局部或全身治疗。对侧第二原发性乳腺癌以及同侧晚期第二原发性乳腺癌风险增加这一有充分记录的情况,可能会影响患者在保乳治疗方面的决策。