Mann Graham J, Thorne Heather, Balleine Rosemary L, Butow Phyllis N, Clarke Christine L, Edkins Edward, Evans Gerda M, Fereday Sián, Haan Eric, Gattas Michael, Giles Graham G, Goldblatt Jack, Hopper John L, Kirk Judy, Leary Jennifer A, Lindeman Geoffrey, Niedermayr Eveline, Phillips Kelly-Anne, Picken Sandra, Pupo Gulietta M, Saunders Christobel, Scott Clare L, Spurdle Amanda B, Suthers Graeme, Tucker Kathy, Chenevix-Trench Georgia
Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Westmead Hospital, Westmead, New South Wales, Australia.
Breast Cancer Res. 2006;8(1):R12. doi: 10.1186/bcr1377. Epub 2006 Feb 13.
The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) is a multidisciplinary, collaborative framework for the investigation of familial breast cancer. Based in Australia, the primary aim of kConFab is to facilitate high-quality research by amassing a large and comprehensive resource of epidemiological and clinical data with biospecimens from individuals at high risk of breast and/or ovarian cancer, and from their close relatives.
Epidemiological, family history and lifestyle data, as well as biospecimens, are collected from multiple-case breast cancer families ascertained through family cancer clinics in Australia and New Zealand. We used the Tyrer-Cuzick algorithms to assess the prospective risk of breast cancer in women in the kConFab cohort who were unaffected with breast cancer at the time of enrolment in the study.
Of kConFab's first 822 families, 518 families had multiple cases of female breast cancer alone, 239 had cases of female breast and ovarian cancer, 37 had cases of female and male breast cancer, and 14 had both ovarian cancer as well as male and female breast cancer. Data are currently held for 11,422 people and germline DNAs for 7,389. Among the 812 families with at least one germline sample collected, the mean number of germline DNA samples collected per family is nine. Of the 747 families that have undergone some form of mutation screening, 229 (31%) carry a pathogenic or splice-site mutation in BRCA1 or BRCA2. Germline DNAs and data are stored from 773 proven carriers of BRCA1 or BRCA1 mutations. kConFab's fresh tissue bank includes 253 specimens of breast or ovarian tissue--both normal and malignant--including 126 from carriers of BRCA1 or BRCA2 mutations.
These kConFab resources are available to researchers anywhere in the world, who may apply to kConFab for biospecimens and data for use in ethically approved, peer-reviewed projects. A high calculated risk from the Tyrer-Cuzick algorithms correlated closely with the subsequent occurrence of breast cancer in BRCA1 and BRCA2 mutation positive families, but this was less evident in families in which no pathogenic BRCA1 or BRCA2 mutation has been detected.
凯瑟琳·坎宁安家族性乳腺癌研究联合会（kConFab）是一个用于研究家族性乳腺癌的多学科协作框架。该联合会位于澳大利亚，其主要目标是通过收集大量全面的流行病学和临床数据以及生物样本，为乳腺癌和/或卵巢癌高危个体及其近亲提供高质量研究便利。
从澳大利亚和新西兰的家庭癌症诊所确诊的多病例乳腺癌家族中收集流行病学、家族史和生活方式数据以及生物样本。我们使用泰勒-库齐克算法评估kConFab队列中在研究入组时未患乳腺癌的女性患乳腺癌的前瞻性风险。
在kConFab最初的822个家族中，518个家族仅有多例女性乳腺癌病例，239个家族有女性乳腺癌和卵巢癌病例，37个家族有女性和男性乳腺癌病例，14个家族既有卵巢癌病例，又有男性和女性乳腺癌病例。目前有11422人的数据以及7389人的种系DNA数据。在收集了至少一个种系样本的812个家族中，每个家族收集的种系DNA样本平均数为9个。在747个接受了某种形式突变筛查的家族中，229个（31%）在BRCA1或BRCA2基因中携带致病或剪接位点突变。从773名已证实的BRCA1或BRCA2突变携带者中存储了种系DNA和数据。kConFab的新鲜组织库包括253份乳腺或卵巢组织标本——包括正常和恶性组织——其中126份来自BRCA1或BRCA2突变携带者。
kConFab的这些资源可供世界任何地方的研究人员使用，他们可以向kConFab申请生物样本和数据，用于经伦理批准、同行评审的项目。泰勒-库齐克算法计算出的高风险与BRCA1和BRCA2突变阳性家族中随后发生的乳腺癌密切相关，但在未检测到致病BRCA1或BRCA2突变的家族中不太明显。
