接受保乳治疗的年轻乳腺癌女性中种系BRCA1和BRCA2突变的患病率。
The prevalence of germline BRCA1 and BRCA2 mutations in young women with breast cancer undergoing breast-conservation therapy.
作者信息
Golshan Mehra, Miron Alex, Nixon Asa J, Garber Judy E, Cash Ethan P, Iglehart James Dirk, Harris Jay R, Wong Julia S
机构信息
Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston, MA 02115, USA.
出版信息
Am J Surg. 2006 Jul;192(1):58-62. doi: 10.1016/j.amjsurg.2005.12.005.
BACKGROUND
Germline mutations of BRCA1 and BRCA2 increase the risk for breast cancer. Mutation carriers selecting breast-conservation therapy (BCT) for treatment of operable breast cancer experience a higher rate of new primary breast cancers. We sought to determine the frequency of BRCA1/BRCA2 mutations in women who underwent BCT. Genetic testing results were compared with the prior probability of mutations in either gene.
METHODS
Eighty-nine patients age 39 or younger entered the study. Genetic testing was performed for BRCA1 and BRCA2 and the BRCAPRO model determined the probability of carrying a mutation.
RESULTS
Eight mutations were discovered (prevalence, 9.0%). Twenty (22%) uncharacterized sequence variants were found. The prior probability of carrying a mutation was 14%. Mutation carriers had a higher prior probability (.49) compared with women with uncharacterized variants (.09) or with normal genes (.11).
CONCLUSIONS
BRCA1 and BRCA2 mutations are common (9%) among unselected young breast cancer patients undergoing BCT.
背景
BRCA1和BRCA2的种系突变会增加患乳腺癌的风险。选择保乳治疗（BCT）来治疗可手术乳腺癌的突变携带者发生新发原发性乳腺癌的几率更高。我们试图确定接受BCT的女性中BRCA1/BRCA2突变的频率。将基因检测结果与任一基因发生突变的先验概率进行比较。
方法
89名39岁及以下的患者进入该研究。对BRCA1和BRCA2进行基因检测，并且BRCAPRO模型确定了携带突变的概率。
结果
发现8个突变（患病率为9.0%）。发现20个（22%）未明确特征的序列变异。携带突变的先验概率为14%。与具有未明确特征变异的女性（0.09）或基因正常的女性（0.11）相比，突变携带者的先验概率更高（0.49）。
结论
在未经过挑选而接受BCT的年轻乳腺癌患者中，BRCA1和BRCA2突变很常见（9%）。
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