K. Nguyen

TL;DR: This analysis localized a second breast cancer susceptibility locus, BRCA2, to a 6-centimorgan interval on chromosome 13q12-13, which preliminary evidence suggests suggests confers a high risk of breast cancer but does not confer a substantially elevated risk of ovarian cancer.

TL;DR: The complete coding sequence and exonic structure of BRCA2 is determined, and its pattern of expression is examined, and a mutational analysis of B RCA2 in families selected on the basis of linkage analysis and/or the presence of one or more cases of male breast cancer is reported.

TL;DR: Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis is located near the centromere on chromosome 17, indicating that a significant proportion of NF cases are due to mutations at a single locus.

TL;DR: Five X-chromosome DNA markers were typed on 261 members of three large kindreds with Alport syndrome (hereditary glomerulonephritis), and it was suggested that the disease locus is on the long arm distal to all the markers typed in this study.

TL;DR: The gene causing von Recklinghausen neurofibromatosis, or NF1, has been more precisely localized in the pericentromeric region of chromosome 17, and narrowing of the location for the disease became possible through the identification of eight new DNA probe genetic markers in the centromeric area.