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 mutationExonMutationaAmino-acid changeaFrequencies in databasebIHC
     Breast cancerAll cancers 
B3BRCA14c.275C>Tp.P92LNR<10−3Negative
B20BRCA15c.481G>Ap.A161T<10−33 × 10−3Positive
B6BRCA15c.527G>Tp.C176F4 × 10−36 × 10−3Positive
B16BRCA16c.599delAp.N200IfsX47NR<10−3Negative
B11cBRCA16c.631delAp.T211LfsX36NRNRNegative
B1BRCA16c.659A>Gp.Y220C0.010.01Negative
B19BRCA17c.701A>Gp.Y234C6 × 10−35 × 10−3Positive
B21BRCA17c.706T>Ap.Y236N<10−3<10−3Positive
B18BRCA17c.742C>Tp.R248W0.030.03Positive
B13BRCA18c.787G>Ap.G266E4 × 10−33 × 10−3Positive
B9BRCA18c.818G>Ap.R273H0.040.03Positive
B34BRCA26c.659A>Gp.Y220C0.010.01Negative
B22dBRCA26c.659A>Gp.Y220C0.010.01Negative
B70BRCAX7c.742C>Tp.R248W0.030.03Positive
B80BRCAX10c.1024C>Tp.R342X2 × 10−32 × 10−3Negative
  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).