Statistical analyses of breast cancer risks for Australian BRCA1 and BRCA2 mutation carriers

澳大利亚BRCA1和BRCA2突变携带者乳腺癌风险统计分析

• 批准号: nhmrc : 454696
• 负责人: Dr Carmel Apicella
• 金额: $ 28.31万
• 依托单位: The University of Melbourne
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2007
• 资助国家: 澳大利亚
• 起止时间: 2007-01-01 至 2009-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/statistical-analyses-breast-mutation-carriers/82575
• 关键词: Statistical; analyses; breast; cancer; risks

About 10 years ago two genes, called BRCA1 and BRCA2, were discovered. The normal function of these genes is to prevent breast and other cancers from developing. All people have two copies of each gene, one inherited from their mother and one from their father. Women who have inherited a fault in one copy are at increased risk of breast and ovarian cancer. There has been considerable controversy about what their actual cancer risks are, especially about how those risks might depend on their age. We have already conducted studies on this and have developed the necessary statistical methods to address these issues by analysing data from the families in which there are faulty genes. In this study we propose to use two large Australian studies, one of families with multiple-cases of breast cancer (Kathleen Cuningham Consortium for Research on Familial Breast Cancer; kConFab) and the other of the families of women with breast cancer chosen, irrespective of their family cancer histories, through the Victorian and NSW Cancer Registries (Australian Breast Cancer Family Study; ABCFS). A large amount of work has already been conducted to identify these families and test them for faults in BRCA1 and BRCA2. There are over 350 families who carry faults, making this one of the largest studies of its type in the world. We will check the cancer histories of these families and determine which members have, or are likely to have, inherited a faulty gene. We will then estimate the breast and ovarian cancer risks accurately, and with much more precision, than has been done previously. We will also use these large datasets to develop a simple method to identify which Australian women are most likely to carry a fault in BRCA1 or BRCA2, based on their personal and family cancer histories. This study will assist genetic counsellors inform Australian women who consider mutation testing for BRCA1 and BRCA2 about their cancer risks, and help make breast cancer genetics more cost effective.

大约10年前，人们发现了两种基因，分别称为BRCA 1和BRCA 2。这些基因的正常功能是防止乳腺癌和其他癌症的发展。每个人的基因都有两个拷贝，一个来自母亲，一个来自父亲。在一个拷贝中遗传了缺陷的女性患乳腺癌和卵巢癌的风险增加。关于他们实际的癌症风险是多少，特别是这些风险如何取决于他们的年龄，一直存在相当大的争议。我们已经对此进行了研究，并制定了必要的统计方法，通过分析存在缺陷基因的家庭的数据来解决这些问题。在这项研究中，我们建议使用两个大型的澳大利亚研究，一个是多例乳腺癌的家庭（Kathleen Cuningham Consortium for Research on Familial Breast Cancer; kConFab），另一个是通过维多利亚州和新南威尔士州癌症登记处（Australian Breast Cancer Family Study; ABCFS）选择的乳腺癌女性家庭，无论其家族癌症史如何。已经进行了大量的工作来识别这些家族，并测试它们在BRCA 1和BRCA 2中的故障。有超过350个家庭携带故障，使其成为世界上最大的同类研究之一。我们将检查这些家庭的癌症史，并确定哪些成员已经或可能已经遗传了一个有缺陷的基因。然后，我们将准确地估计乳腺癌和卵巢癌的风险，并且比以前做的更精确。我们还将利用这些大型数据集开发一种简单的方法，根据个人和家族癌症史，确定哪些澳大利亚女性最有可能在BRCA 1或BRCA 2中携带缺陷。这项研究将有助于遗传咨询师告知那些考虑进行BRCA 1和BRCA 2突变检测的澳大利亚妇女，她们的癌症风险，并有助于使乳腺癌遗传学更具成本效益。