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Table 3 Characteristics of Chinese breast CA patients identified with aberrant clonal expansion TP53 mutation or mosaic 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 (Asian/All)

VAF (%)

Germline (deNovo)/ACE

Germline evidence(s)

C/R

Tumor types

Age at Dx

Mutation type

Stage of disease

Vital status

Family history

LFS/LFL

Classification

FM

HF

BS

PT

F19

c.524_547dup; p.Cys182_Ser183insCys

CysProHisHisGluArgCys

NI

Novel

17.5

Mosaic

–

L

L

NA

N

Breast CA

40

Insertion

Stage II

Alive

/

N

N

F20

c.775G > A;

p.Asp259Asn

NI

Novel

58.7

Likely ACEa

NA

NA

NA

NA

Y

BreastCA,

Breast CA

46

48

Missense Mutation

Stage II Stage I

Alive

/

N

N

  1. LFS (Classic Li-Fraumeni syndrome): an individual diagnosed age < 45 with a sarcoma AND a first degree relative diagnosed age < 45 with cancer AND an additional first or second degree relative in the same linage with cancer diagnosed age < 45 or with a sarcoma at any age [1]
  2. LFL (Li-Fraumeni-like Syndrome): an individual with two first- or second degree relatives with LFS tumors spectrum at any age, rather than the three required by the classic criteria [20] OR proband with any childhood cancer or sarcoma, brain tumor, or adrenocortical carcinoma diagnosed under 45 years of age, with one first or second degree relative with typical LFS cancer diagnosed at any age, plus one first or second degree relative in the same lineage with any cancer diagnosed under age 60 [19]
  3. Chompret: Individual with a tumor from LFS tumor spectrum diagnosed < 46 AND at least one first or second degree relative with any of the aforementioned cancers (other than breast cancer if the proband has breast cancer < 56 OR individual with multiple primaries at any age OR individual with multiple tumors (excluding multiple breast tumors), two of which belong to LFS tumors spectrum with the initial cancer occurring < 46 OR individual with adrenocortical carcinoma or choroid plexus carcinoma or rhabdomyosarcoma of embryonal anaplastic subtype at any age, regardless of family history or breast cancer diagnosed < 31 [21].
  4. Abbreviations: FM family member(s); HF hair follicle; BS buccal swab; PT paternity test; C/R chemotherapy or radiotherapy; NI no information; NA not available; Dx diagnosis; VAF variant allele frequency; ACE aberrant clonal expansion; P pathogenic; LP likely pathogenic; VUS variant of unknown significance; L low VAF
  5. aLikely ACE: an individual diagnosed age < 35 AND with no family history of cancer(s) AND received chemotherapy or radiotherapy before genetic test
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BMC Cancer

ISSN: 1471-2407

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