Understanding the genetic causes and clinical aspects of being born with a mutation in the TP53 gene in Sweden

Molecular Characterization and Clinical Aspects of Germline TP53 Mutations in the Swedish Constitutional TP53 Cohort.

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ISRCTN

Registry ID

ISRCTN13103571

Enrollment

100

Registered

2019-10-14

Start date

2017-01-01

Completion date

Unknown

Last updated

2025-04-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Germline TP53 mutation carriers Genetic Diseases

Interventions

The study involves four parts. Clinical information on cancer diagnoses, treatment, follow-up, genetic testing results and family history will be collected in a registry for all participants. In add

(2) participate in the surveillance programme with clinical examination and whole-body MRI for adults and ultrasound of the abdomen and urinary sample for children

and (3) fill out three questionnaires that measure quality of life, cancer worry and benefits/risks of surveillance. Whole-body MRI and standardised clinical examination is added to standard breas

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. All carriers of a pathogenic TP53 germline variant over the age of 15 years OR all children (0-18 years) who have 50% risk of inheriting a pathogenic TP53 germline variant 2. Able to provide informed consent

Exclusion criteria

Exclusion criteria: 1. Individuals with a TP53 germline variant of unknown pathogenicity

Design outcomes

Primary

Measure	Time frame
TNM and clinical stage measured by reviewing medical records, histopathology and radiological reports	—

Secondary

Measure	Time frame
1. Number and distribution of detected premalignant lesions based on MRI examination for adults or ultrasound of the abdomen for children at baseline, at annual examination or by any radiological method used if symptoms arise during the interval between controls 2. The proportion of R0 / R1 / R2 tumor surgery based on surgical and radiological reports 3. Location and number of incidental findings that lead to additional examinations with radiology and/or invasive techniques after image diagnostics in the control program (i.e. on MRI examination or ultrasound examination at baseline or at annual examination) 4. Number of benign tumors detected using MRI/ultrasound at baseline or at annual examination 5. Tumor aggression (growth in serial imaging and information from histopathology report) 6. Measures of psychosocial health, i.e. compare year 5 with year 0 using SF36 Health Survey (widely used world-wide to measure patient reported outcomes), Cancer worry scale (Lerman C, 1994, Douma KH, 2010, Lammens CRM, 2010) and a questionnaire addressing the benefits and barriers to surveillance (Lammens CRM, 2010; Champion VL, 1984; Kash KM, 1992; Madalinska JB, 2007) 7. Measuring the penetrance, onset age, tumor spectrum, heredity, genotype-phenotype correlations of TP53 mutation carriers in Sweden to characterize the Swedish TP53 families based on review of medical records, pedigree data and genetic testing results 8. Practical feasibility of a national image-diagnostic surveillance program based on feedback from the radiologists, oncologists, pediatric oncologists and genetics departments at our annual workshops 9. Characterize the significance of new TP53 variants using cell-lines in the laboratory to test new TP53 variants 10. Discover modifying genetic/environmental factors using data from the risk factor questionnaire (local form) filled in at inclusion in the study and from genetic tests performed on the samples taken as part of this study 11.Investigate whether cell fre	—

Measure

Time frame

1. Number and distribution of detected premalignant lesions based on MRI examination for adults or ultrasound of the abdomen for children at baseline, at annual examination or by any radiological method used if symptoms arise during the interval between controls 2. The proportion of R0 / R1 / R2 tumor surgery based on surgical and radiological reports 3. Location and number of incidental findings that lead to additional examinations with radiology and/or invasive techniques after image diagnostics in the control program (i.e. on MRI examination or ultrasound examination at baseline or at annual examination) 4. Number of benign tumors detected using MRI/ultrasound at baseline or at annual examination 5. Tumor aggression (growth in serial imaging and information from histopathology report) 6. Measures of psychosocial health, i.e. compare year 5 with year 0 using SF36 Health Survey (widely used world-wide to measure patient reported outcomes), Cancer worry scale (Lerman C, 1994, Douma KH, 2010, Lammens CRM, 2010) and a questionnaire addressing the benefits and barriers to surveillance (Lammens CRM, 2010; Champion VL, 1984; Kash KM, 1992; Madalinska JB, 2007) 7. Measuring the penetrance, onset age, tumor spectrum, heredity, genotype-phenotype correlations of TP53 mutation carriers in Sweden to characterize the Swedish TP53 families based on review of medical records, pedigree data and genetic testing results 8. Practical feasibility of a national image-diagnostic surveillance program based on feedback from the radiologists, oncologists, pediatric oncologists and genetics departments at our annual workshops 9. Characterize the significance of new TP53 variants using cell-lines in the laboratory to test new TP53 variants 10. Discover modifying genetic/environmental factors using data from the risk factor questionnaire (local form) filled in at inclusion in the study and from genetic tests performed on the samples taken as part of this study 11.Investigate whether cell fre

—

Countries

Sweden

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 28, 2026