青少年女性对乳腺癌易感基因或乳腺癌家族史的心理适应和预期风险
2016年8月22日，美国临床肿瘤学会官方期刊《临床肿瘤学杂志》在线发表宾夕法尼亚大学佩雷尔曼医学院、费城儿童医院、天普大学福克斯蔡斯癌症中心、宾夕法尼亚大学艾布拉姆森癌症中心、芝加哥大学、华盛顿特区国家儿童医学中心、麻省总医院（马萨诸塞州综合医院）的研究报告，评估了乳腺癌家族史（BCFH）和母亲乳腺癌易感基因（BRCA）1/2突变对11～19岁女孩心理适应和预期风险的影响。
该研究对208位BCFH阳性、69位母亲BRCA1/2阳性、112位BCFH阴性的11～19岁女孩及其母亲，进行了心理适应、乳腺癌特异性苦恼、乳腺癌预期风险的评估。
结果发现：
无论根据本人报告还是根据其母亲报告，BCFH阳性、阴性女孩的心理适应评分基本上无显著差异，除了BCFH阳性女孩的自尊评分较高（P=0.01）。
BCFH阳性女孩与BCFH阴性女生相比，乳腺癌特异性苦恼评分较高（P＜0.001），但是从BRCA1/2阳性家庭女孩与其他BCFH阳性同龄人无区别。
BCFH阳性女孩与BCFH阴性同龄人相比，更有可能在成年期报告自己乳腺癌风险增加（74%比33%，P≤0.001）。
BRCA1/2阳性家庭女孩与其他BCFH阳性和BCFH阴性同龄人相比，更有可能报告自己乳腺癌风险增加（P <0.001）。
所有研究组的乳腺癌预期风险与年龄较大相关。
青少年女性的乳腺癌特异性苦恼评分较高，与乳腺癌自我预期风险较高、母亲乳腺癌特异性苦恼评分较高有相关性。
因此，BRCA1/2阳性和乳腺癌家庭青少年女性与同龄人相比，自尊评分较高，心理适应评分不低。然而，她们的乳腺癌特异性苦恼和乳腺癌预期风险较高，尤其是年龄较大的女孩。了解其影响对于在乳腺癌家族性和遗传性风险家庭中成长的反应是重要的，尤其对于儿童检测成年期癌症易感性基因的争议。
J Clin Oncol. 2016 Aug 22. [Epub ahead of print]
Psychosocial Adjustment and Perceived Risk Among Adolescent Girls From Families With BRCA1/2 or Breast Cancer History.
Angela R. Bradbury, Linda Patrick-Miller, Lisa A. Schwartz, Brian L. Egleston, Dare Henry-Moss, Susan M. Domchek, Mary B. Daly, Lisa Tuchman, Cynthia Moore, Paula K. Rauch, Rebecca Shorter, Kelsey Karpink, Colleen Burke Sands.
The Perelman School of Medicine of the University of Pennsylvania; The Children's Hospital of Philadelphia; Fox Chase Cancer Center, Temple University Health System; The Basser Research Center for BRCA in the Abramson Cancer Center at the University of Pennsylvania, Philadelphia, PA; The University of Chicago, Chicago, IL; Children's National Medical Center, Washington, DC; Massachusetts General Hospital, Boston, MA.
PURPOSE: To evaluate the impact of breast cancer family history and maternal BRCA1/2 mutation on the psychosocial adjustment and perceived risk in girls age 11 to 19 years old.
MATERIALS AND METHODS: Girls age 11 to 19 years old with one or more relatives with breast cancer or a familial BRCA1/2 mutation (breast cancer family history [BCFH] positive, n = 208; n = 69 with BRCA1/2-positive mother), peers (BCFH negative, n = 112), and their mothers completed assessments of psychosocial adjustment, breast cancer-specific distress, and perceived risk of breast cancer.
RESULTS: General psychosocial adjustment did not differ significantly between BCFH-positive and BCFH-negative girls, either by self-report or mother report, except for higher self-esteem among BCFH-positive girls (P = .01). BCFH-positive girls had higher breast cancer-specific distress than BCFH-negative girls (P < .001), but girls from BRCA1/2-positive families did not differ from other BCFH-positive peers. BCFH-positive girls were more likely to report themselves at increased self-risk for breast cancer in adulthood than BCFH-negative peers (74% v 33%, respectively; P ≤ .001). Girls from BRCA1/2-positive families were more likely than other BCFH-positive and BCFH-negative peers to report themselves at increased risk (P < .001). In all groups, perceived risk of breast cancer was associated with older age. Higher breast cancer-specific distress among adolescent girls was associated with higher self-perceived risk of breast cancer and higher maternal breast cancer-specific distress.
CONCLUSION: Adolescent girls from BRCA1/2-positive and breast cancer families have higher self-esteem and do not have poorer psychosocial adjustment than peers. However, they do experience greater breast cancer-specific distress and perceived risk of breast cancer, particularly among older girls. Understanding the impact is important to optimize responses to growing up in families at familial and genetic risk for breast cancer, particularly given the debate over the genetic testing of children for cancer susceptibility in adulthood.
Supported by The Basser Research Center for BRCA in the Abramson Cancer Center at the University of Pennsylvania and the Fox Chase Cancer Center Keystone Program in Personalized Risk. Recruitment through Pediatric Research Consortium was supported by National Institutes of Health/National Center for Advancing Translational Sciences Grant No. UL1TR000003.
DOI: 10.1200/JCO.2015.66.3450