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Table 1 TP53 mutation spectrum in French Canadian cancer families and/or cases

From: Germline TP53 mutational spectrum in French Canadians with breast cancer

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]
  1. 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).
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