风险支持区间计算中基因型特异性外显率概率的变异性。
Variability of genotype-specific penetrance probabilities in the calculation of risk support intervals.
作者信息
Leal S M, Ott J
机构信息
Department of Otolaryngology, University of Tübingen, Germany.
出版信息
Genet Epidemiol. 1995;12(6):859-62. doi: 10.1002/gepi.1370120655.
Abstract
Previously, a maximum likelihood method was described to construct a support interval for the risk. This method is extended to incorporate genotype specific penetrance probabilities in the calculation of a risk support interval. As an empirical example, the support interval for the risk is calculated for a member of a published breast-ovarian cancer kindred.
摘要
此前，曾描述过一种用于构建风险支持区间的最大似然法。该方法已得到扩展，以便在计算风险支持区间时纳入特定基因型的外显率概率。作为一个实证例子，为一个已发表的乳腺癌 - 卵巢癌家族中的一名成员计算了风险支持区间。
相似文献
1
Variability of genotype-specific penetrance probabilities in the calculation of risk support intervals.风险支持区间计算中基因型特异性外显率概率的变异性。
Genet Epidemiol. 1995;12(6):859-62. doi: 10.1002/gepi.1370120655.
2
Risks of cancer due to a single BRCA1 mutation in an extended Utah kindred.犹他州一个大家族中单个BRCA1基因突变导致的癌症风险。
Fam Cancer. 2007;6(1):63-71. doi: 10.1007/s10689-006-9106-8.
3
Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.在大量检测BRCA1/2突变的家族中乳腺癌和卵巢癌的外显率。
Eur J Hum Genet. 2004 Nov;12(11):899-906. doi: 10.1038/sj.ejhg.5201256.
4
BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.使用BOADICEA和BRCAPRO模型对高危法裔加拿大家庭进行BRCA1和BRCA2突变预测及外显率估计
Breast Cancer Res. 2006;8(1):R3. doi: 10.1186/bcr1365. Epub 2005 Dec 12.
5
The genetic attributable risk of breast and ovarian cancer.乳腺癌和卵巢癌的遗传归因风险。
Cancer. 1996 Jun 1;77(11):2318-24. doi: 10.1002/(SICI)1097-0142(19960601)77:11<2318::AID-CNCR21>3.0.CO;2-Z.
6
Characterization of BRCA1 and BRCA2 mutations in a large United States sample.美国一个大型样本中BRCA1和BRCA2突变的特征分析。
J Clin Oncol. 2006 Feb 20;24(6):863-71. doi: 10.1200/JCO.2005.03.6772.
7
MDM2 SNP309 accelerates breast and ovarian carcinogenesis in BRCA1 and BRCA2 carriers of Jewish-Ashkenazi descent.MDM2基因单核苷酸多态性309加速了犹太裔阿什肯纳兹血统的BRCA1和BRCA2携带者的乳腺癌和卵巢癌发生。
Breast Cancer Res Treat. 2008 Oct;111(3):497-504. doi: 10.1007/s10549-007-9797-z. Epub 2007 Nov 18.
8
Risk models for familial ovarian and breast cancer.家族性卵巢癌和乳腺癌的风险模型。
Genet Epidemiol. 2000 Feb;18(2):173-90. doi: 10.1002/(SICI)1098-2272(200002)18:2<173::AID-GEPI6>3.0.CO;2-R.
9
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.由于BRCA1和BRCA2基因的遗传性突变导致的乳腺癌和卵巢癌风险。
Science. 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759.
10
Penetrance of breast cancer, ovarian cancer and contralateral breast cancer in BRCA1 and BRCA2 families: high cancer incidence at older age.BRCA1 和 BRCA2 家族乳腺癌、卵巢癌和对侧乳腺癌的外显率：老年时癌症发病率高。
Breast Cancer Res Treat. 2010 Dec;124(3):643-51. doi: 10.1007/s10549-010-0805-3. Epub 2010 Mar 4.
本文引用的文献
1
Genetic heterogeneity and localization of a familial breast-ovarian cancer gene on chromosome 17q12-q21.家族性乳腺-卵巢癌基因在17q12-q21染色体上的遗传异质性与定位
Am J Hum Genet. 1993 Apr;52(4):767-76.
2
3
A likelihood approach to calculating risk support intervals.一种用于计算风险支持区间的似然方法。
Am J Hum Genet. 1994 May;54(5):913-7.
4
Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
Am J Hum Genet. 1984 Mar;36(2):460-5.
5
A general model for the genetic analysis of pedigree data.家系数据遗传分析的通用模型。
Hum Hered. 1971;21(6):523-42. doi: 10.1159/000152448.
6
Recurrence risks for multifactorial inheritance.多因素遗传的复发风险
Am J Hum Genet. 1971 Nov;23(6):578-88.
7
Approximate confidence intervals for risk prediction in genetic counseling.遗传咨询中风险预测的近似置信区间。
Am J Hum Genet. 1986 May;38(5):681-7.
8
Evaluating the uncertainty of risk prediction in genetic counseling: a Bayesian approach.
Am J Med Genet. 1988 Nov;31(3):513-9. doi: 10.1002/ajmg.1320310305.
9
Risk calculations under heterogeneity.异质性下的风险计算
Am J Hum Genet. 1989 Nov;45(5):819-21.
Zotero 插件