RT Journal Article SR Electronic T1 Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 884 OP 888 DO 10.1136/jmg.34.11.884 VO 34 IS 11 A1 U Hamann A1 M Häner A1 U Stosiek A1 G Bastert A1 R J Scott YR 1997 UL http://jmg.bmj.com/content/34/11/884.abstract AB In this study we investigated 45 German breast/ovarian cancer families for germline mutations in the BRCA1 gene. We identified four germline mutations in three breast cancer families and in one breast-ovarian cancer family. among these were one frameshift mutation, one nonsense mutation, one novel splice site mutation, and one missense mutation. The missense mutation was also found in 2.8% of the general population, suggesting that it is not disease associated. The average age of disease onset in those families harbouring causative mutations was between 32.3 and 37.4 years, whereas the family harbouring the missense mutation had an average age of onset of 51.2 years. These findings show that BRCA1 is implicated in a small fraction of breast/ovarian cancer families suggesting the involvement of another susceptibility gene(s).