Germline TP53 mutational spectrum in French Canadians with breast cancer

BMC Medical Genetics

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).

ISSN: 1471-2350