Southey Melissa C, Park Daniel J, Nguyen-Dumont Tu, Campbell Ian, Thompson Ella, Trainer Alison H, Chenevix-Trench Georgia, Simard Jacques, Dumont Martine, Soucy Penny, Thomassen Mads, Jønson Lars, Pedersen Inge S, Hansen Thomas Vo, Nevanlinna Heli, Khan Sofia, Sinilnikova Olga, Mazoyer Sylvie, Lesueur Fabienne, Damiola Francesca, Schmutzler Rita, Meindl Alfons, Hahnen Eric, Dufault Michael R, Chris Chan Tl, Kwong Ava, Barkardóttir Rosa, Radice Paolo, Peterlongo Paolo, Devilee Peter, Hilbers Florentine, Benitez Javier, Kvist Anders, Törngren Therese, Easton Douglas, Hunter David, Lindstrom Sara, Kraft Peter, Zheng Wei, Gao Yu-Tang, Long Jirong, Ramus Susan, Feng Bing-Jian, Weitzel Jeffrey N, Nathanson Katherine, Offit Kenneth, Joseph Vijai, Robson Mark, Schrader Kasmintan, Wang San, Kim Yeong C, Lynch Henry, Snyder Carrie, Tavtigian Sean, Neuhausen Susan, Couch Fergus J, Goldgar David E
Breast Cancer Res. 2013 Jun 21;15(3):402. doi: 10.1186/bcr3434.
Linkage analysis, positional cloning, candidate gene mutation scanning and genome-wide association study approaches have all contributed significantly to our understanding of the underlying genetic architecture of breast cancer. Taken together, these approaches have identified genetic variation that explains approximately 30% of the overall familial risk of breast cancer, implying that more, and likely rarer, genetic susceptibility alleles remain to be discovered.
连锁分析、定位克隆、候选基因突变扫描和全基因组关联研究方法都对我们理解乳腺癌潜在的遗传结构做出了重大贡献。综合来看，这些方法已识别出的遗传变异约占乳腺癌总体家族风险的30%，这意味着更多、可能也更罕见的遗传易感性等位基因仍有待发现。
