Table 2 Characteristics of Chinese breast CA patients (no chemo/radiotherapy received before genetic test) identified with germline TP53 mutation
From: Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients
Patient ID | Nucleotide alteration | Clin-var | Number of cases in IARC TP53 (Asian/All) | VAF (%) | Germline | Germline evidence(s) | C/R | Tumor types | Age at Dx | Mutation type | Stage of disease | Vital status | Family history | LFS/ LFL | Classifi-cation | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FM | HF | BS | PT | |||||||||||||||
F01 | c.96 + 1G > T; Del of exon3 r.75_96del p.Leu26Profs*11 | P/LP | 0/0 | 51.5 | Confirmed germline | – | + | + | NA | Y | Breast CA Breast CA | 18 43 | Splice-Site Mutation | Stage I Stage 0 | Alive | Breast CA, Colorectal CA, Brain and CNS Tumors | LFL | Chompret |
F02 | c.422G > A; p.Cys141Tyr | P | 5/11 | 56.9 | Confirmed Germline; DeNovo | – | + | + | Y | N | Breast CA, Breast CA, Thyroid CA | 30 34 32 | Missense Mutation | Stage II Stage 0 | Alive | Colorectal CA, Lung CA | LFL | Chompret |
F03 | c.473G > A; p.Arg158His | P/LP | 2/23 | 51.4 | Suspected germlineb | – | NA | NA | NA | Y | Breast CA | 47 | Missense Mutation | Stage III | Deceased | Multiple Lung CAs, Colorectal CA, Brain and CNS Tumor | LFL | N |
F04 | c.490A > G; p.Lys164Glu | VUS | 0/0 | 54.3 | Confirmed germline | + | / | / | / | N | Breast CA | 24 | Missense Mutation | Stage 0 | Alive | Osteosarcoma, Soft Tissue Tumor, NPC | LFS | Chompret |
F05 | c.527G > T; p.Cys176Phe | LP | 0/1 | 36.9 | Suspected germlineb | NA | NA | NA | NA | Y | Breast CA, Breast CA Ovarian CA Lung CA | 22 31 38 38 | Missense Mutation | Stage II Stage 0 | Alive | Liver CA, Stomach CA | N | Chompret |
F06 | c.529_546del; p.Pro177Cys182del | NI | Novel | 33.1 | Confirmed Germline; DeNovo | – | + | + | Y | N | Breast CA | 30 | Missense Mutation | Stage II | Alive | Multiple Lung CAs, Stomach CA, Laryngeal CA Prostate CA | LFL | Chompret |
F07 | c.536A > G; p.His179Arg | VUS | 2/2 | 48.5 | Confirmed germline | + | / | / | / | Y | Breast CA, Breast CA | 33 33 | Missense Mutation | Stage II Stage I | Deceased | Esophageal CAs, Stomach CA, Lung CA, Stomach CA, Bone CA, Breast CA, Connective Tissue CA | LFS | Chompret |
F08 | c.541C > T; Arg181Cys | P/LP/ VUS | 17/21 | 55.1 | Suspected germlineb | NA | NA | NA | NA | Y | Breast CA, Breast CA | 36 42 | Missense Mutation | Stage II Stage I | Alive | Lung CA, Testicular CA Ovarian CA | LFL | N |
F09 | c.626_627dupGA; p.Asn210Glufs*38 | NI | 0/3 | 35.0 | Confirmed Germline; Likely DeNovo | – | + | + | NA | N | Breast CA, Breast CA Thyroid CA | 30 46 53 | Insertion | Stage 0Stage 0 | Alive | / | N | Chompret |
F10 | c.638G > A; p.Arg213Gln | P | 5/16 | -a | Confirmed germline | + | / | / | / | Y | Breast CA, Thymus CA, Adrenocortical CA | 28 25 5 | Missense Mutation | Stage II | Alive | Thyroid CA, Lung CA, Brain and CNS Tumors | LFL | Chompret |
F11 | c.722C > T; p.Ser241Phe | LP | 3/6 | 65.8 | Suspected germlineb | – | NA | NA | NA | Y | Breast CA, Breast CA | 25 32 | Missense Mutation | Stage 0 Stage I | Deceased | Colorectal CA, Breast CA | LFL | Chompret |
F12 | c.743G > A; p.Arg248Gln | P/LP | 14/64 | 50.9 | Confirmed germline | + | / | / | / | Y | Breast CA, Breast CA | 44 44 | Missense Mutation | Stage IIA Stage IIA | Alive | Sarcoma Multiple Breast CAs Stomach CA | LFS | Chompret |
F13 | c.818G > A; p.Arg273His | P/LP | 23/75 | 48.3 | Confirmed germline | NA | + | + | NA | N | Breast CA, Breast CA | 28 30 | Missense Mutation | Stage 0Stage 0 | Alive | Unknown CA | N | Chompret |
F14 | c.825 T > G; p.Cys275Trp | LP | 0/0 | 43.7 | Germline; Likely DeNovo | – | NA | NA | NA | N | Breast CA, Breast CA | 28 35 | Missense Mutation | Stage I unknown | Deceased | / | N | Chompret |
F15 | c.844C > T; p.Arg282Trp | P/LP | 13/52 | 51.7 | Germline; Likely DeNovo | NA | NA | NA | NA | N | Breast CA, Brain and CNS Tumors | 27 30 | Missense Mutation | Stage II | Deceased | / | N | Chompret |
F16 | c.916C > T; p.Arg306* | P | 9/33 | 44.3 | Confirmed Germline; Likely DeNovo | – | + | + | NA | N | Breast CA | 32 | Nonsense Mutation | Stage I | Alive | Lung CA Oral CA Colorectal CA | LSL | Chompret |
F17 | c.1010G > A; p.Arg337His | P | 2/112 | 42.4 | Confirmed germline | + | / | / | / | Y | Breast CA, Lung CA | 42 54 | Missense Mutation | Stage II | Alive | Colorectal CA, Uterus CA, Multiple Breast CAs, Multiple Lung CAs | LFS | Chompret |
F18 | c.1025G > C; p.Arg342Pro | P/LP | 2/6 | 51.0 | Suspected germlineb | NA | NA | NA | NA | N | Breast CA, Breast CA | 23 23 | Missense Mutation | Stage I Stage II | Alive | Nasopharyngeal CA, Liver CA | N | Chompret |