. Author manuscript; available in PMC: 2016 May 1.

Published in final edited form as: JAMA Oncol. 2015 Mar 12;1(2):10.1001/jamaoncol.2015.0197. doi: 10.1001/jamaoncol.2015.0197

Table 2.

Characteristics of TP53 Alterations Identified Among 457 Participants With Colorectal Cancer (CRC) at Age 40 Years or Younger^a

Patient No./ Sex/Ageb	Family History		Nucleotide Change	Genome Loc	Amino Acid Change	Minor Allele Freq	Species Conservation	Exon	In silico Pathogenicity Assessment Results^c
Patient No./ Sex/Ageb	Chompret Crit	Classic LFS Crit	Nucleotide Change	Genome Loc	Amino Acid Change	Minor Allele Freq	Species Conservation	Exon	PolyPhen-2	SIFT
1/M/38	No	No	c.455C>T	g.7578475	p.Pro152Leu	Undefined	Highly conserved	5	Probably damaging	Not tolerated
2/M/37	No	No	c.1136G>A	g.7572973	p.Arg379His	Undefined	Moderately conserved	11	Benign	Tolerated
3/M/33	No	No	c.869G>A rs55819519	g.7577069	p.Arg290His	0.0003EA 0.0002AA	Moderately conserved	8	Benign	Tolerated
4/M/25	No	No	c.847C>T rs149633775	g.7577091	p.Arg283Cys	0.0005EA 0.0002AA	Moderately conserved	8	Benign	Not tolerated
5/F/19	No	No	c.850A>T	g.7577088	p.Thr284Ser	Undefined	Moderately conserved	8	Possibly damaging	Tolerated
6/F/35	No	No	c.704A>G rs114340710	g.7577577	p.Asn235Ser	0.0001EA 0.0002AA	Moderately conserved	7	Benign	Tolerated

Abbreviations: AA, African American; crit, criteria; EA, European American; freq, frequency; LFS, Li-Fraumeni syndrome; loc, location.

None of the 6 TP53 probands carried a known germline variant of uncertain significance in MLH1, MSH2, MSH6, or PMS2; none carried a monoallelic MUTYH mutation.

Age in years at CRC diagnosis.

Interactive Biosoftware.