English

Generated Narrative: DiagnosticReport mii-exa-molgen-befundbericht-1

Profiles: MII PR MolGen Molekulargenetischer Befundbericht version: 2027.0.0-ballot.1, Genomic Report version: 3.0.0

Genetic analysis report (Genetics)

SubjectMaja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))
Performer Practitioner Dr. Daniel Schmidt(official)

Report Details

CodeValueFlagsRelevant Time
Diagnostic ImplicationFinal2022-04-07
Therapeutic ImplicationFinal2022-04-07
Genetic variant assessmentPresentFinal2022-04-07
Genotype display nameBRAF rs113488022 T>AFinal2022-04-07
Mutations/Megabase [# Ratio] in Tumor12 Mutations/Megabase (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')Final
Microsatellite instability [Interpretation] in Cancer specimen QualitativeStableFinal

BRAF p.V600E Mutation liegt vor. Bitte Therapieoption mit einem BRAF-Inhibitor prüfen.

English

Generated Narrative: Task mii-exa-molgen-medikationsempfehlung-1

Profiles: MII PR MolGen Medikationsempfehlung version: 2027.0.0-ballot.1, Medication Recommendation version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Requested

intent: proposal

code: Alternative Medikation in Erwägung ziehen

for: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

reasonReference: Observation Therapeutic Implication

English

Generated Narrative: Task mii-exa-molgen-folgemassnahme-1

Profiles: MII PR MolGen Empfohlene Folgemaßnahme version: 2027.0.0-ballot.1, Followup Recommendation version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Requested

intent: proposal

code: Genetic counseling recommended

description: Genetische Beratung empfohlen mit Dr. Rosalind Franklin

for: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

reasonReference: Observation Therapeutic Implication

English

Generated Narrative: FamilyMemberHistory mii-exa-molgen-family-member-history-1

Profile: MII PR MolGen Familienanamnese version: 2027.0.0-ballot.1

status: Completed

patient: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

date: 2022-04-07

relationship: Mother (person)

sex: Female (finding)

deceased: true

reasonCode: Adenocarcinoma of anorectum (disorder)

Conditions

-CodeContributedToDeath
*Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder)true

English

Generated Narrative: ServiceRequest mii-exa-molgen-anforderung-1

Profile: MII PR MolGen Anforderung genetischer Test version: 2027.0.0-ballot.1

status: Active

intent: Order

category: Laboratory procedure (procedure)

code: BRAF: Exon 15 (Codon 600)

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

authoredOn: 2022-04-07

requester: Practitioner Dr. Linda Rubens(official)

reasonCode: Adenocarcinoma of anorectum (disorder)

supportingInfo: FamilyMemberHistory: status = completed; date = 2022-04-07; relationship = Mother (person); sex = Female (finding); deceased[x] = true; reasonCode = Adenocarcinoma of anorectum (disorder)

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

English

Generated Narrative: Patient mii-exa-molgen-patient

Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

Deceased:false
Other Ids:
  • Gesetzliche Krankenversicherung/Z234567890 (use: official, )
  • Private Krankenversicherung/123456 (use: secondary, )
Alt. Name:Haffer (Name changed for Marriage)
Contact DetailAnna-Louisa-Karsch Str. 2 Berlin DE-BE 10178 DE

English

Generated Narrative: Practitioner mii-exa-molgen-practitioner-lab

active: true

name: Dr. Daniel Schmidt(Official)

English

Generated Narrative: Specimen mii-exa-molgen-specimen-1

identifier: https://biobank.uk-musterstadt.de/fhir/sid/proben/5432

status: Available

type: Tissue specimen from colon (specimen)

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

Collections

-Collected[x]BodySite
*2022-03-24 12:44:00+0100Colon structure (body structure)

English

Generated Narrative: Observation mii-exa-molgen-diagnostische-implikation-1

Profiles: MII PR MolGen Diagnostische Implikation version: 2027.0.0-ballot.1, Diagnostic Implication version: 3.0.0

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

Components

-CodeValue[x]
*Conclusion TextNachweis einer aktivierenden Mutation BRAF V600E

English

Generated Narrative: Observation mii-exa-molgen-therapeutische-implikation-1

Profiles: MII PR MolGen Therapeutische Implikation version: 2027.0.0-ballot.1, Therapeutic Implication version: 3.0.0

status: Final

category: Laboratory, Genetics

code: Therapeutic Implication

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

performer: Practitioner Dr. Daniel Schmidt(official)

derivedFrom: Observation Genetic variant assessment

component

code: Conclusion Text

value: Nachweis einer aktivierenden Mutation BRAF V600E. Triple-Therapie mit einem EGFR-Antikörper sowie einem BRAF- und einem MEK- Inhibitor prüfen.

component

code: Medication assessed [ID]

value: BRAF Inhibitor

component

code: Medication assessed [ID]

value: EGFR (Epidermal Growth Factor Receptor) inhibitors

component

code: Medication assessed [ID]

value: Mitogen-activated protein kinase (MEK) inhibitors

English

Generated Narrative: Observation mii-exa-molgen-variante-1

Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

value: Present

method: Sequencing

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: BRAF

component

code: Genomic reference sequence [ID]

value: NM_004333.4

component

code: DNA region name [Identifier]

value: Exon #15

component

code: DNA region name [Identifier]

value: Codon #582 - #612

component

code: DNA change (c.HGVS)

value: NM_004333.4:c.1799T>A

component

code: Amino acid change (pHGVS)

value: p.(Val600Glu)

component

code: Sample variant allelic frequency [NFr]

value: 30.25 % (Details: UCUM code% = '%')

component

code: Cytogenetic (chromosome) location

value: 7q34

component

code: DNA change type

value: point_mutation

component

code: Discrete genetic variant

value: rs113488022

English

Generated Narrative: Observation mii-exa-molgen-genotyp-1

Profiles: MII PR MolGen Genotyp version: 2027.0.0-ballot.1, Genotype version: 3.0.0

status: Final

category: Laboratory, Genetics

code: Genotype display name

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

effective: 2022-04-07

value: BRAF rs113488022 T>A

method: Sequencing

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

device: Device: status = active; manufacturer = Illumina

derivedFrom: Observation Genetic variant assessment

component

code: Gene studied [ID]

value: BRAF

component

code: Cytogenetic (chromosome) location

value: 7q34

English

Generated Narrative: Observation mii-exa-molgen-mutationslast-1

Profiles: MII PR MolGen Mutationslast version: 2027.0.0-ballot.1, Molecular Biomarker version: 3.0.0

status: Final

category: Laboratory, A characterization of a given biomarker observation.

code: Mutations/Megabase [# Ratio] in Tumor

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

performer: Practitioner Dr. Daniel Schmidt(official)

value: 12 Mutations/Megabase (Details: UCUM code1/1000000{Base} = '1/1000000{Base}')

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

English

Generated Narrative: Device mii-exa-molgen-device-sequencer

status: Active

manufacturer: Illumina

DeviceNames

-NameType
*MiSeqManufacturer name

English

Generated Narrative: Practitioner mii-exa-molgen-practitioner-physician

active: true

name: Dr. Linda Rubens(Official)

English

Generated Narrative: Observation mii-exa-molgen-mikrosatelliteninstabilitaet-1

Profiles: MII PR MolGen Mikrosatelliteninstabilität version: 2027.0.0-ballot.1, Molecular Biomarker version: 3.0.0

status: Final

category: Laboratory, A characterization of a given biomarker observation.

code: Microsatellite instability [Interpretation] in Cancer specimen Qualitative

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))

value: Stable

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)