To further address this issue, as well as to elucidate the mutational spectrum in German population subjects with BC suggestive of LFS/LFL, we conducted both massive parallel sequencing and copy number analyses for a set of 94 cancer predisposition genes in a cohort of 83 TP53-negative and BRCA1/2-negative BC patients from the German population who met at least one of the hitherto suggested Li-Fraumeni-related criteria (LFS/LFL/Chompret criteria). Here, BRCA1 is linked to cancer.