Localization of a Breast Cancer Susceptibility Gene, BRCA2 , to Chromosome 13q12-13

作者：Richard Wooster, Susan L. Neuhausen, Jonathan Mangion, Yvette Quirk, Deborah Ford, Nadine Collins, Kim Ngoc Nguyen, Sheila Seal, Thao D. Tran, Diane Averill, Patty Fields, Gill Marshall, Steven Alexander Narod, Gilbert Lenoir, Henry T. Lynch, Jean Feunteun, Peter Devilee, Cees J. Cornelisse, Fred H. Menko, Peter A. Daly, Wilma J. Ormiston, Ross McManus, Carole Pye, Cathryn M. Lewis, Lisa Cannon‐Albright, Julian Peto, Bruce A.J. Ponder, Mark H. Skolnick, Douglas F. Easton, David E. Goldgar, Michael R. Stratton · 发表于：Science · 年份：1994 · DOI：10.1126/science.8091231 · 被引用次数：1936 · 研究领域：BRCA gene mutations in cancer、Genomic variations and chromosomal abnormalities、DNA Repair Mechanisms

A small proportion of breast cancer, in particular those cases arising at a young age, is due to the inheritance of dominant susceptibility genes conferring a high risk of the disease. A genomic linkage search was performed with 15 high-risk breast cancer families that were unlinked to the BRCA1 locus on chromosome 17q21. This analysis localized a second breast cancer susceptibility locus, BRCA2, to a 6-centimorgan interval on chromosome 13q12-13. Preliminary evidence suggests that BRCA2 confers a high risk of breast cancer but, unlike BRCA1, does not confer a substantially elevated risk of ovarian cancer.