Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families.
Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families.
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遗传性乳腺癌和卵巢癌家族中基因检测的预期采用和影响。
DOI：
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发表时间：
1995
期刊：
影响因子：
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通讯作者：
M. Tucker
中科院分区：
文献类型：
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作者：
J. Struewing;C. Lerman;R. Kase;T. Giambarresi;M. Tucker
在对BRCA1基因鉴定的预期中，我们研究了高危家庭成员对该基因突变的DNA检测的兴趣和预期反应。我们对91名女性和49名男性受试者进行了结构化访谈。所有受试者都是参加国家癌症研究所基因连锁研究的遗传性乳腺癌-卵巢癌家族的成员。这项研究的主要结果是对基因测试的兴趣和测试结果的预期影响。79%的受试者表示他们“肯定”想要接受检测，16%的人“可能”想要检测BRCA1基因的突变。自我感觉BRCA1基因改变的风险很高的受试者更有可能明确想要检测(P=0.02)，而估计的真实遗传风险并不能预测对检测的兴趣。女性明显更有可能明确要求测试(P=0.005)，平均预期负面影响得分(2.3%)明显高于男性(1.0%)(P<；0.001)。我们发现参与遗传连锁研究的遗传性乳腺癌-卵巢癌家族成员对BRCA1的基因检测有很高的兴趣。考虑到早期发现和治疗乳腺癌和卵巢癌的可能性，虽然使用率可能会低于本次和其他初步调查中报告的兴趣水平，但对BRCA1检测的兴趣可能转化为高摄取率。这些结果表明，将后续咨询和支持纳入BRCA1测试计划将是至关重要的。
In anticipation of the identification of the BRCA1 gene, we studied the interest in and anticipated reaction to DNA testing for mutations in this gene in members of high-risk families. We surveyed 91 female and 49 male subjects using a structured interview by study nurses. All subjects were members of inherited breast-ovarian cancer families participating in a genetic linkage study at the National Cancer Institute. The main outcomes of the study were interest in genetic testing and anticipated impact of test results. Seventy nine % of subjects indicated that they would "definitely" want to be tested, and 16% would "probably" want to be tested for mutations in the BRCA1 gene. Subjects with a high self-perceived risk of having an altered BRCA1 gene were more likely to definitely want testing (P = 0.02), while estimated true genetic risk did not predict interest in the test. Females were significantly more likely to definitely want testing (P = 0.005) and had a significantly greater mean anticipated negative-impact score (2.3) compared to males (1.0) (P < 0.001). We found a high level of interest in genetic testing for BRCA1 among members of inherited breast-ovarian cancer families participating in a genetic linkage study. While utilization may fall below levels of interest reported in this and other preliminary surveys, given the potential for early detection and treatment of breast and ovarian cancer, interest in BRCA1 testing may translate into high rates of uptake. These results indicate that it will be critical to incorporate follow-up counseling and support into BRCA1 testing programs.
癌症易感性的基因检测：行为科学问题。
DOI：
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发表时间：
1995
期刊：
Journal of the National Cancer Institute. Monographs.
影响因子：
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作者：
Lerman,C;Croyle,RT
通讯作者：
Croyle,RT
保险和基因检测：我们现在在哪里？
影响因子：
9.8
作者：
Ostrer,H;Allen,W;Crandall,LA;Moseley,RE;Dewar,MA;Nye,D;McCrary,SV
通讯作者：
McCrary,SV
影响因子：
56.9
作者：
HALL, JM;LEE, MK;KING, MC
通讯作者：
KING, MC