Table 4 TP53 mutational spectrum in familial breast cancers and comparison with immunohistochemical analysis

From: Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases

Case no. Germline mutation Exon Mutation a Amino-acid change a Frequencies in database b IHC
      Breast cancer All cancers  
B3 BRCA1 4 c.275C>T p.P92L NR <10−3 Negative
B20 BRCA1 5 c.481G>A p.A161T <10−3 3 × 10−3 Positive
B6 BRCA1 5 c.527G>T p.C176F 4 × 10−3 6 × 10−3 Positive
B16 BRCA1 6 c.599delA p.N200IfsX47 NR <10−3 Negative
B11c BRCA1 6 c.631delA p.T211LfsX36 NR NR Negative
B1 BRCA1 6 c.659A>G p.Y220C 0.01 0.01 Negative
B19 BRCA1 7 c.701A>G p.Y234C 6 × 10−3 5 × 10−3 Positive
B21 BRCA1 7 c.706T>A p.Y236N <10−3 <10−3 Positive
B18 BRCA1 7 c.742C>T p.R248W 0.03 0.03 Positive
B13 BRCA1 8 c.787G>A p.G266E 4 × 10−3 3 × 10−3 Positive
B9 BRCA1 8 c.818G>A p.R273H 0.04 0.03 Positive
B34 BRCA2 6 c.659A>G p.Y220C 0.01 0.01 Negative
B22d BRCA2 6 c.659A>G p.Y220C 0.01 0.01 Negative
B70 BRCAX 7 c.742C>T p.R248W 0.03 0.03 Positive
B80 BRCAX 10 c.1024C>T p.R342X 2 × 10−3 2 × 10−3 Negative
  1. IHC, immunohistochemistry; NR, not reported.
  2. aDesignations according the guidelines of the Human Genome Variation Society (http://www.hgvs.org).
  3. bBased on a total of 20 021 mutations in all types of tumors and of 2221 mutations in breast cancers (The TP53 website: http://p53.free.fr/Database/p53_database.html; 2007 version).
  4. cOne additional silent mutation identified in exon 4 (c.264C>T, p.A88A).
  5. dTwo additional silent mutations identified in exon 8 (c.870C>T, p.R290R; c.895C>T, p.L299L).