Figure 1.

Segregation and loss of heterozygosity analysis of the S384F variant (BRCA2, exon 10) in kindred ID 326. (a) Patients ID 326.1, ID 326.2 and ID 326.4 were heterozygous for the variant. In contrast, a patient with bilateral breast cancer (ID 326.3) diagnosed at 32 and 50 years of age did not carry the variant. Filled symbols indicate individuals with breast cancer. UV+, patients heterozygous for the S384F variant; UV-, patients homozygous for the wild-type allele. (b) Arrows indicate patients from whom tumour samples were available. In the tumours of both ID 326.1 (left) and ID 326.2 (right), loss of the wild-type allele could be excluded.