DHPLC analysis of FANCD2 in the 33 index cases from 30 breast and ovarian cancer families, and of exons 9 and 19 (containing the ATM phosphorylation site and the FANCD2 monoubiquitination site, respectively) in a further 399 non-BRCA1/2 index cases, identified 32 germline sequence alterations, most of which were novel (Table 2). Here, BRCA1 is linked to ovarian carcinoma.