Prevalence of TP53 Germline Variants in Selected Cohorts

Diagnosis Cohort Cases Analyzed Cases Mutated Variant Prevalence (%) Remark PubMed
Choroid plexus tumor Pediatric tumors 5 0 0.0 None 22653678
Stomach ca. Probands with primary gastric cancer in LFL families (only exons 5-8 analyzed) 23 0 0.0 None 19674071
Choroid plexus papilloma Choroid plexus papilloma 6 0 0.0 None 20308654
Brain medulloblastoma Adult SHH-MB cases 49 0 0.0 None 24651015
Brain medulloblastoma Infant (<=3 years) SHH-MB cases 50 0 0.0 None 24651015
Osteosarcoma Unselected osteosarcoma cases >=30 years old 51 0 0.0 None 25896519
Ovarian ca. ovarian, fallopian tube, or peritoneal carcinoma at age 40 years or younger 47 0 0.0 None 26718727
Breast ca. Triple negative TNBC, newly diagnosed or in aftercare, treated in the Department of Gynecology and Obstetrics, University Hospital Erlange, between 01/2012 and 06/2016 229 0 0.0 None 30257646
Breast ca. Mexican women diagnosed with primary breast cancer with suspicion of HBOC 300 0 0.0 None 30262796
Breast ca. Male breast cancer cases from the Italian multicenter study on MBC, unselected for age at diagnosis and family history of cancer 523 0 0.0 None 30613976
Breast ca. Male breast cancer cases who underwent multi gen panel testing at Ambry Genetics between 2012 and 2016 708 0 0.0 None 28008555
Breast ca. Unselected Japanese men with breast cancer 53 0 0.0 None 30287823
Breast ca. Women <30 yo, irrespective of family history 52 2 3.8 None 20501846
Endometrial serous carcinoma Unselected 151 2 1.3 None 22811390
Breast ca. Unrelated women < 30 years old with NO family history of cancer 63 2 3.0 None 16644204
Breast ca. Unrelated women with BC < 30 years old with family history (HBCO or LFL) 37 2 5.0 None 16644204
Breast ca. Unrelated women diagnosed with breast cancer that fulfilled the criteria for HBOC genetic testing according to NCCN Clinical Practice Guidelines in Oncology v.1.2010 28 2 7.1 None 24625245
Breast ca. BC affected Brazilian women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features 59 2 3.4 None 24936644
Breast ca. Consecutive cases of breast cancers submitted to Myriad Genetic Laboratories for BRCA1/2 testing and not mutated for BRCA1/2 76 2 2.6 None 25186627
Breast ca. BRCA1 and BRCA2 mutation-negative breast and/or ovarian cancer families of French Canadian descent 52 2 3.8 None 17541742
Breast ca. Women with early-onset breast cancer or affected relatives from four breast disease clinical centers in China 240 2 0.8 None 19238535
Breast ca. & Cutaneous melanoma Female and male with BC&melanoma or Melanoma&BC 82 2 2.4 None 17624602
Breast ca. Early-onset breast cancer (<=35), or bilateral breast cancer, or family history of breast or ovarian cancer 133 2 0.15 None 26824983
Breast ca. Invasive breast cancer cases diagnosed and treated from 2010 to 2015 at Sarawak General Hospital 464 2 0.5 None 28664506
Rhabdomyosarcoma Sporadic cases 33 3 9.0 None 7706467
Rhabdomyosarcoma Sporadic cases < 4 years old 13 3 23.0 None 7706467
Breast + Ovary ca. Probands from families with 4 or more cases of BC or ovarian cancer but negative for commercial genetic test results of BRCA1 and BRCA2 300 3 1.0 None 16551709
Breast ca. Women between 30-39 and with two or more 1st or 2nd relatives with BC or OC 42 3 7.1 None 20501846
Breast ca. HER2 positive <51 years old 213 3 1.4 None 23580068
Adrenocortical ca. chidren (<=18 years) with ADC 6 3 50.0 None 7966399
Breast ca. Hereditary BC: BC < 35 years+one relative with any cancer, or BC at 35-50 years+two relatives with any cancer, or BC > 50 years+three relatives with any cancer 99 3 3.0 None 25927356
Breast ca. In situ Cases of pure DCIS with no invasive disease diagnosed in women aged under 50 655 3 0.45 None 31060593
LFL-B LFL-B 18 4 22.2 None 9242456
Breast ca. BRCA negative <37 years old 83 4 4.8 None 22507745
Adrenocortical ca. Unselected cases 53 4 7.5 None 23175693
Adrenocortical ca. Adult onset 103 4 3.9 None 22170717
Ovarian ca. Women with a personal history of OC of any histologic subtype, submitted to GeneDx Laboratories (Gaithersburg, MD) between 2013 and 2017 4439 4 0.001 None 30322717
Breast and uterine cancer Women with breast and uterine cancer who underwent multi-gene hereditary cancer panel testing at a single commercial laboratory (Ambry Genetics, Aliso Viejo, CA). 1650 4 0.24 None 30612783
Breast ca. Women with a personal history of breast cancer were referred for germline testing at the University of Virginia from January 2015 to July 2017 612 4 0.65 None 29958926
Breast ca. Women < 35 years, BRCA1/2 negative 83 5 6.0 None 22507745
Breast ca. Unrelated women < 36 years old with NO family history and negative for BRCA1/2 mutation 128 5 4.0 None 19652052
Breast + Ovary ca. High-risk breast and/or ovarian cancer probands recruited by the Hong Kong Hereditary and High Risk Breast Cancer Program from 2007 to 2014. 948 5 0.52 None 27157322
Breast + Ovary ca. Cases with personnal or family history of breast and/or ovarian cancer referred to the Cancer Genetics Service at the National Cancer Centre Singapore 220 5 2.3 None 29263802
Breast ca. Women younger than 45 years old and BRCA-negative 78 5 6.4 None 30709381
Breast ca. ascertained from the Hunter Area Pathology Service, Newcastle, Australia5 BC cases from the Hunter Area Pathology Service, Newcastle, Australia and from the Variants in Practice Study from the combined Familial Cancer Centers, Melbourne, Australia 999 5 0.5 None 26786923
Breast ca. BRCA negative <30 years old 28 6 21.4 None 22851211
Colorectal ca. Population-based and clinic-based CRC <= 40 years lacking a known hereditary cancer syndrome 457 6 1.3 None 26086041
Breast ca. Non-BRCA1/2 families from the Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab). 684 6 0.9 None 26534844
t-AML therapy-related Acute Myeloid leukemia 107 6 5.6 None 27621308
Pancreatic ca. Patients from the Mayo Clinic Biospecimen Resource for Pancreas Research, diagnosed with pancreatic ductal adenocarcinoma, recruited between 2012 and 2016, with available genomic DNA extracted from peripheral blood lymphocyte 3030 6 0.2 None 29922827
Hereditary breast cancer syndrome Patients with suspected hereditary breast cancer syndrome tested at the Clinical Cancer Genetics Service of the National University Cancer Institute between 2001 and 2017 460 6 1.3 None 30875412
Osteosarcoma Cases < 20 years old 71 7 9.8 None 12610779
Breast + Ovary ca. Patients analyzed in the context of a genetic session and fulfilling criteria for HBOC 708 7 0.98 None 24549055
Adrenocortical ca. Adult cases 49 7 14.3 None 29070607
LFS LFS 15 8 53.3 None 9569035
LFS LFS 11 8 73.0 None 20522432
Choroid plexus ca. Choroid plexus carcinomas 18 8 44.4 None 20308654
STS Cases < 16 years old 107 9 8.4 None 12610779
Brain medulloblastoma Childhood (4-17 years) SHH-MB cases 30 9 30.0 None 24651015
Breast ca. Palestinian women with a diagnosis of invasive breast cancer 875 9 1.0 None 28486781
Breast ca. HER2 positive BC in women younger than 40 years old 304 9 2.9 None 26681682
LFL-B LFL-B 36 10 28.0 None 20522432
Advanced cancer Patients with metastatic or inoperable locally advanced or recurrent cancer 1000 10 10.0 None 26787237
Breast ca. Unrelated women < 36 years old with family history and negative for BRCA1/2 mutation 161 12 7.4 None 19652052
Adrenocortical ca. Chidren <15 years with ADC and without significant family history 14 12 86.0 None 10486318
Breast ca. Triple negative Triple-Negative Breast Cancer cases subjected to clinical germline cancer panel testing between 2012 and 2016 at Ambry Genetics 8753 14 0.16 None 30099541
LFS LFS 21 15 71.5 None 9242456
Breast ca. Unselected Japanese women with breast cancer 7051 16 0.2 None 30287823
Sarcoma Adult onset 556 17 3.0 None 23894400
Choroid plexus ca. Children plus one adult 47 17 39.5 None 29070607
Breast ca. Patients with high hereditary risk BC from 26 hospitals of 14 provinces in China recruited between October 2015 and September 2016 937 21 2.2 None 29752822
Chompret revised Chompret revised 105 22 21.0 None 20522432
Breast and/or Ovary ca. Patients and families from across India with an indication of breast and/or ovarian cancers 1010 23 0.09 None 29470806
Breast ca. included in TP53 genetic testing because of relevant personal and/or family history 109 30 28.0 None 21761402
Breast ca. Nationwide sample of women with primary breast cancer <40 years old referred for hereditary cancer genetic testing by Ambry Genetics Inc between March 15, 2012 and June 30, 2016. 8009 32 0.4 None 28418444
Adrenocortical ca. Chidren (<=20 years) with ADC 68 34 50.0 None 25584008
Breast ca. Consecutive breast cancer patients treated at the Breast Center of Peking University Cancer Hospital from 2003 to 2015 8085 38 0.5 None 28724667
Osteosarcoma Unselected osteosarcoma cases <30 years old 505 48 9.5 None 25896519
Breast ca. Nationwide sample of women with primary breast cancer referred for hereditary cancer genetic testing by Ambry Genetics Inc between March 15, 2012 and June 30, 2016. 38305 48 0.13 None 28418444
Pediatric cancers Cancer patients younger than 20 years of age 1120 54 4.8 None 26580448
Brain glioma Familial glioma 101 1 1.0 None 20455025
Adrenocortical ca. Pediatric tumors 3 1 33.3 None 22653678
Rhabdomyosarcoma Pediatric tumors 18 1 50.5 None 22653678
Sarcoma + Breast ca. Probands with sarcoma and BC (BC in proband or in a first degree relative) in family not fulfilling LFS 21 1 4.8 None 12471212
Breast ca. Women < 30 years old with no cancer in first- or second-degree relatives 14 1 7.1 None 19204208
Breast ca. Cases < 35 years old 43 1 2.3 None 23469205
Breast ca. African-american with BC<45 or history of BC or OV ca. 289 1 0.35 None 25428789
Pancreatic ca. Cohort of pancreatic cancer 290 1 0.3 None 25479140
Ovarian ca. TCGA exome sequenced cases 429 1 0.002 None 24448499
Sarcoma Cases < 50 years old 66 1 1.5 None 28878254
Colorectal ca. unrelated cases of undefined-familial CRC <55 years old that were negative for a mutation in a known cancer susceptibility genes for CRC 857 1 0.12 None 27356891
Breast + Ovary ca. Cross-sectional hospital cohort of 68 women with HBOC, referred for genetic testing between 2011 and 2016 at Taipei Veterans General Hospital 68 1 1.5 None 28961279
AML de novo Acute Myeloid leukemia 72 1 1.4 None 27621308
Colorectal ca. High-risk CRC families fulfilling the Amsterdam I/II or Bethesda clinical criteria but negative for MMR gene mutations 98 1 1.02 None 30256826
Colorectal ca. Individuals diagnosed with CRC age<50 evaluated by the clinical genetics service at University of Michigan Comprehensive Cancer Center between 1998 and 2015 430 1 0.23 None 29146522
Family history of various cancer types Probands having two or more cancers in families with history of various cancer types 122 37 30.3 None 19556618
Adrenocortical ca. Children cases 97 45 46.4 None 29070607
Breast + Ovary ca. patients with BC < 36 years, bilateral BC < 51 years, affected by BC and OC even in the absence of a family history of BC and OC 5589 47 0.9 None 29522266
LFS Chompret French families suggestive of LFS, including 232 families fulfilling Chompret criteria 474 82 17.3 None 18511570
Family history of various cancer types Individuals who underwent testing of a multi-gene panel in a single clinical diagnostic laboratory between 2010 and 2014 40885 102 0.2 None 29529297
Family history of various cancer types Individuals who underwent testing of TP53 in a single clinical diagnostic laboratory between 2010 and 2014 3201 132 4.1 None 29529297
Family history of various cancer types Probands with family history of cancer whose DNA was submitted to genetic testing at City of Hope CMDL 525 91 17.3 None 19204208
Ovarian ca. Patients aged at least 18 years with primary diagnosis or platinum-sensitive relapse of invasive epithelial ovarian cancer in Germany 525 0 0.0 NGS sequencing 29053726
Ovarian ca. women with invasive epithelial ovarian cancer recruited between October 2008 and February 2015 at University Malaya Medical Centre in Kuala Lumpur 218 0 0.0 NGS sequencing 26541979
Ovarian ca. Women with high-grade serous ovarian cancer in Serbia 131 0 0.0 NGS sequencing 30651582
Breast + Ovary ca. BRCA negative HBOC 64 0 0.0 only exons 5-8 analyzed 21203900
Breast ca. Triple negative Triple-Negative Breast Cancer cases from the Triple-Negative Breast Cancer Consortium 2148 2 0.09 updated with PMID:30099541 25452441
Breast ca. Unrelated women < 30 years old negative for BRCA1/2 mutation, not LFS/LFL 95 2 2.1 The 2 cases were silent mutations 19714488
Sarcoma + Breast ca. Unrelated individuals from families with one case of sarcoma and at least one case of breast cancer 23 3 13.0 Of 3 mutated cases, 1 was LFS and 2 LFL 17224268
Choroid plexus papilloma Cases from a single Institution 7 0 0.0 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 21445348
Breast ca. Cohort of Portuguese women diagnosed with breast cancer, unselected for a family history of the disease. 573 0 0.0 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 25052705
Breast ca. Unselected invasive cases (20-60 years) 390 2 0.5 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 22455664
Osteosarcoma Pediatric tumors 41 3 7.0 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 21192060
Breast ca. Women with BC diagnosed before 46 years and without Chompret criteria for LFS or LFL 239 6 2.5 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 30596752
Neuroblastoma Pediatric cases 83 7 8.4 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 26452166
Breast phyllodes tumors. Unselected 148 8 5.4 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 23794094
Choroid plexus ca. Pediatric tumors 13 9 69.0 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 21192060
Pediatric cancers Children with cancers 292 11 3.7 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 24122735
Choroid plexus ca. Cases from a single Institution 22 14 63.6 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 21445348
Breast ca. Women with BC unselected for age of diagnosis and family history 315 1 0.3 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 30596752
Adrenocortical ca. Pediatric tumors 70 65 93.0 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 21192060
Breast ca. BC affected Brazilian women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older 815 70 8.6 Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) 24936644
Non-small cell lung cancer patients with lung adenocarcinoma eligible for surgery, with no history of chemotherapy, recruited from a referral center of thoracic surgery between 2006 and 2013 45 4 8.9 Only the c.1010G>A;p.R337H mutation was found (0.3% frequency in Brazilian population) 28968711
Adrenocortical ca. Children diagnosed with ACT within 5 years after neonatal screening for TP53 R337H variant 13 11 85.0 Frequency of ACT differed significantly between newborns negative (two of 171,188) and positive (11 of 461) for the R337H mutation 23733769
Loading...
Loading...
Loading...