Table 1.
TP53 mutation spectrum in French Canadian cancer families and/or cases
| TP53 mutation designation | Amino acid codon alteration | Location of mutation (exon) | Cancer and age of diagnosis (years) of mutation carrier index case | Family pedigree number | Family history of breast and/or ovarian cancer | Comments | Source of family or case | Reference |
|---|---|---|---|---|---|---|---|---|
| c.638G>A | p.Arg213Gln | 6 | BiBr38 | F1039 | yes | Related to F1444 | A | [8] |
| c.638G>A | p.Arg213Gln | 6 | Br41 | F1444 | yes | Related to F1039 | A | [8] |
| c.655C>T | p.Pro219Ser | 6 | ACC5 | F187 | yes | Related to F1581 | B | [13] |
| c.655C>T | p.Pro219Ser | 6 | ACC1 | F1581 | yes | Related to F187 | B | This study |
| c.685T>C | p.Cys229Arg | 7 | Br35;Br38 | F1602 | yes | C | This study | |
| c.685T>C | p.Cys229Arg | 7 | Br46 | F1603 | yes | C | This study | |
| c.703A>G | p.Asn235Asp | 7 | ACC2 | F171 | yes | B | [13] | |
| c.730G>A | p.Gly244Ser | 7 | Br29 | F1582 | yes | B | This study | |
| c.742C>T | p.Arg248Trp | 7 | Bt45 | F1580 | no | B | This study | |
| c.844C>T | p.Arg282Trp | 8 | Lip21 | F1583 | yes | B | This study | |
| c.844C>T | p.Arg282Trp | 8 | Br30;Br38 | F1604 | no | C | This study | |
| c.869G>A | p.Arg290His | 8 | Br44 | F875 | yes | A | [8] |
Source of index cases from HBC families reported in a previous study of TP53 mutation (A) [8], new cancer families from hereditary cancer clinics (B) or from breast cancer cases not selected for family history of cancer [(C); Index cases diagnosed with adrenocortical carcinoma (ACC), bilateral breast cancer (BiBr), breast cancer (Br), brain tumor (Bt), or liposarcoma (Lip).