All putative deleterious germline mutations and proband characteristics.

Mutation nomenclature follows the recommended guidelines of the Human Genome Variation Society, with the nucleotide numbering based on the GenBank reference sequence indicated by its accession NCBI number. Details are listed in S2 Table.
Abbreviations: HCS, hereditary cancer syndrome; HBOCS, hereditary breast and ovarian cancer syndrome; LFS, Li-Fraumeni syndrome; LS, Lynch syndrome; U/A, unavailable; D, damaging; B, benign; C, conserved; NC, not conserved; and PD, probably damaging. BIC, breast cancer information core, URL: http://research.nhgri.nih.gov/bic/. p53 mutation database, URL: http://www-p53.iarc.fr, version R16.
a Results of segregation studies marking positive individuals out of the total number available for validation.
b All variants were queried against 1000 Genomes (1000G) data using the 1000 Genomes Browser (http://browser.1000genomes.org/index.html) which integrates SNP and InDel calls from 1,092 individuals (data released 2012 April). The minor allele frequency (MAF) is provided here.
cIn sillico prediction (missense prediction software and evolutionary conservation) were used for the determination of pathogenicity of missense mutations. Detailed criteria were described in Materials and Methods.
All putative deleterious germline mutations and proband characteristics.