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BRCA phenocopies or ascertainment bias?BRCA基因拟表型还是确诊偏倚？
J Med Genet. 2007 Aug;44(8):e86; author reply e88.
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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.利用基于小鼠胚胎干细胞的测定法，对定位于 PALB2 结合和 C 末端 DNA 结合结构域的 BRCA2 变异体进行功能评估。
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Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry.非家族性 BRCA1 和 BRCA2 突变携带者的乳腺癌风险：来自乳腺癌家族登记处的研究结果。
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本文引用的文献

1
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening.BRCA1和BRCA2家族中的拟表型：修饰基因的证据及其对筛查的意义。
J Med Genet. 2007 Jan;44(1):10-15. doi: 10.1136/jmg.2006.043091. Epub 2006 Nov 1.
2
Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.在未根据家族史进行选择的病例系列中检测到的与BRCA1或BRCA2基因突变相关的乳腺癌和卵巢癌平均风险：22项研究的综合分析
Am J Hum Genet. 2003 May;72(5):1117-30. doi: 10.1086/375033. Epub 2003 Apr 3.
3
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.乳腺癌家族中BRCA1和BRCA2基因的遗传异质性及外显率分析。乳腺癌连锁协会。
Am J Hum Genet. 1998 Mar;62(3):676-89. doi: 10.1086/301749.
4
Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.家族性乳腺癌和卵巢癌的基因连锁分析：来自214个家庭的结果。乳腺癌连锁协会。
Am J Hum Genet. 1993 Apr;52(4):678-701.
5
Projecting individualized probabilities of developing breast cancer for white females who are being examined annually.为每年接受检查的白人女性预测患乳腺癌的个体概率。
J Natl Cancer Inst. 1989 Dec 20;81(24):1879-86. doi: 10.1093/jnci/81.24.1879.

BRCA phenocopies or ascertainment bias?

作者信息

Goldgar David, Venne Vickie, Conner Tom, Buys Saundra

出版信息

J Med Genet. 2007 Aug;44(8):e86; author reply e88.

PMID:17673440
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2597933/
Abstract
摘要