Johns Dana, Agarwal Jay, Anderson Layla, Ying Jian, Kohlmann Wendy
1 Department of Surgery, University of Utah Health Sciences Center , Salt Lake City, Utah.
2 Department of Surgery, Huntsman Cancer Institute-University of Utah Health Care , Salt Lake City, Utah.
J Womens Health (Larchmt). 2017 Jun;26(6):702-706. doi: 10.1089/jwh.2016.5931. Epub 2016 Dec 6.
BRCA1 and BRCA2 gene mutations carry with them a 50%-80% risk of developing breast cancer. The best choice for managing breast cancer risk in patients with a BRCA1/2 mutation is a highly personal decision. Options for risk management include surveillance with multiple modalities or prophylactic surgical intervention. The goal of this study was to gain a better understanding of contributing factors affecting the decision for managing breast cancer risk made by patients who are BRCA mutation positive and cancer free.
A retrospective chart review of patients, who tested positive for BRCA1/2 gene mutation between 2003 and 2013 without history of breast cancer, was performed. A logistic regression model was used to assess the association between preselected risk factors and the decision of the patient to undergo prophylactic mastectomy versus surveillance.
Of the 106 patients who were cancer free and BRCA positive, seventy (66%) opted for surveillance, whereas 36 (34%) chose prophylactic mastectomy. Three preselected risk factors were found to significantly affect a patient's likelihood of choosing surgery: having a family member with breast cancer before the age of 50 (OR: 4.67 [95% CI: 1.86-11.68]), p = 0.001), cancer-related death of a relative younger than 50 years old (OR: 2.26 [95% CI: 0.92-5.55], p = 0.07), and prophylactic oophorectomy before planned mastectomy (OR: 3.72 [95% CI: 1.49-9.31], p = 0.005). Patient age less than 30 was found to be significantly associated with the decision to proceed with surveillance (OR: 0.2 [95% CI: 0.05-0.75], p = 0.02).
Risk-reducing strategy is a very personal decision for the patient with positive BRCA mutation, and many factors go into choosing which options are best for each individual. We found that age of patient, relative with breast cancer or death of a relative before age 50, and prophylactic oophorectomy all play significant roles in which risk reduction strategy is chosen.
BRCA1和BRCA2基因突变会使患乳腺癌的风险达到50%-80%。对于管理携带BRCA1/2突变患者的乳腺癌风险而言，最佳选择是一个高度个体化的决定。风险管理选项包括多种方式的监测或预防性手术干预。本研究的目的是更好地了解影响BRCA突变阳性且无癌症患者做出乳腺癌风险管理决定的相关因素。
对2003年至2013年间BRCA1/2基因突变检测呈阳性且无乳腺癌病史的患者进行回顾性病历审查。采用逻辑回归模型评估预先选定的风险因素与患者选择预防性乳房切除术还是监测之间的关联。
在106例无癌症且BRCA阳性的患者中，70例（66%）选择了监测，而36例（34%）选择了预防性乳房切除术。发现三个预先选定的风险因素会显著影响患者选择手术的可能性：有一位50岁之前患乳腺癌的家庭成员（比值比：4.67[95%置信区间：1.86-11.68]，p=0.001），一位50岁以下亲属因癌症死亡（比值比：2.26[95%置信区间：0.92-5.55]，p=0.07），以及在计划乳房切除术之前进行预防性卵巢切除术（比值比：3.72[95%置信区间：1.49-9.31]，p=0.005）。发现患者年龄小于30岁与选择进行监测的决定显著相关（比值比：0.2[95%置信区间：0.05-0.75]，p=0.02）。
对于BRCA突变阳性的患者，降低风险策略是一个非常个体化的决定，选择最适合每个个体的选项时会涉及许多因素。我们发现患者年龄、50岁之前患乳腺癌的亲属或亲属死亡，以及预防性卵巢切除术在选择哪种降低风险策略方面均发挥着重要作用。
