Pedigree of the proband. The person whose germ-line and tumor DNA was sequenced is indicated with an arrowhead (ovarian adenocarcinoma, age 48). Clear evidence of segregation between the mutation and breast and ovarian cancer is seen by the presence of triple-negative BRCA1-related breast cancer in her sister and daughter, who both carry the S1841R allele. Other carriers are indicated, with untested obligate carriers indicated as (+/−).
Zhang et al. BMC Cancer 2013 13:146 doi:10.1186/1471-2407-13-146