Homologous recombination repair (HRR) gene panel status
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-HRR-PANEL |
|---|---|
| Тип | Біомаркер |
| Синоніми | HRR gene panel statusПанель генів гомологічної рекомбінаційної репарації (HRR) |
| Статус | очікує клінічного підпису |
| Хвороби | DIS-BREAST DIS-CLL DIS-MCL DIS-MELANOMA DIS-OVARIAN DIS-PDAC DIS-PROSTATE |
| Джерела | Не вказано |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"genes": ["BRCA1", "BRCA2", "ATM", "BARD1", "BRIP1", "CDK12", "CHEK1", "CHEK2", "FANCL", "PALB2", "RAD51B", "RAD51C", "RAD51D", "RAD54L"], "inheritance": "germline OR somatic", "type": "loss-of-function variants"} |
| Вимірювання | MethodTumor-tissue NGS panel (somatic) OR ctDNA OR germline NGS Sensitivity requirementVAF detection threshold ≥5% recommended for ctDNA |
| Пов’язані біомаркери | BIO-BRCA-GERMLINE |
Нотатки
Поєднане герміногенне та соматичне тестування виявляє ~25% HRR-позитивності при метастатичному кастрат-резистентному раку передміхурової залози (mCRPC). Найбільший виграш від PARPi — при мутаціях BRCA1/2 (вищий rPFS HR). Інфраструктура тестування в Україні є основним вузьким місцем — відзначено для огляду клініцистом.
Де використовується
Handbook Chapters
HB-PROSTATE-MCRPC-1L- Metastatic castration-resistant prostate cancer: biomarker and sequencing reasoning
Handbook Questions
HQ-PROSTATE-MCRPC-1L-003- HQ-PROSTATE-MCRPC-1L-003
Indications
IND-PROSTATE-MCRPC-1L-ARPI- IND-PROSTATE-MCRPC-1L-ARPIIND-PROSTATE-MCRPC-1L-PARPI- IND-PROSTATE-MCRPC-1L-PARPIIND-PROSTATE-MCRPC-2L-PARPI- IND-PROSTATE-MCRPC-2L-PARPI
Questionnaires
QUEST-PROSTATE-1L-STUB- Prostate adenocarcinoma — first line
Tests
TEST-GERMLINE-BRCA-PANEL- Germline BRCA1/2 + HRR panel sequencingTEST-SOMATIC-HRR-PANEL- Tumor-tissue (or ctDNA) HRR-pathway NGS panel
Біомаркер
BIO-BRCA-GERMLINE- Germline BRCA1/2 mutation status
Клінічна застосовність
BMA-ATM-GERMLINE-BREAST- ATM germline pathogenic confers ~2× lifetime breast-cancer risk; no PARPi indication (TBC...BMA-ATM-GERMLINE-PDAC- ATM germline pathogenic confers ~5-10× pancreatic-cancer risk; PARPi activity in ATM-muta...BMA-ATM-GERMLINE-PROSTATE- ATM germline pathogenic in mCRPC: olaparib approved per PROfound (Cohort A included ATM);...BMA-ATM-LOSS-CLL- ATM loss in CLL (del(11q) or somatic mutation): historically poor-prognostic with chemoim...BMA-ATM-LOSS-MCL- ATM is the most common somatic mutation in MCL (~40-50%). Not directly therapy-selecting;...BMA-ATM-SOMATIC-BREAST- Somatic ATM loss-of-function in breast: minimal PARPi activity in ATM-only basket arms; t...BMA-ATM-SOMATIC-PDAC- Somatic ATM loss-of-function in PDAC: limited evidence; platinum sensitivity may be enhan...BMA-ATM-SOMATIC-PROSTATE- Somatic ATM loss-of-function in mCRPC: PROfound enrolled both germline and somatic ATM in...BMA-BARD1-GERMLINE-BREAST- BARD1 germline pathogenic confers moderate breast-cancer risk (~2-3×). BARD1 forms hetero...BMA-BARD1-GERMLINE-OVARIAN- BARD1 germline pathogenic in EOC: rare; included in HRR panels; PARPi benefit extrapolate...BMA-BARD1-SOMATIC-BREAST- Somatic BARD1 in breast: rare; biological HRR rationale only. ESCAT IIIA / OncoKB Level 3...BMA-BARD1-SOMATIC-OVARIAN- Somatic BARD1 in EOC: HRR panel inclusion variable; PARPi off-label consideration in HRD-...BMA-BRCA1-SOMATIC-BREAST- Somatic BRCA1 loss-of-function in HER2-negative metastatic breast: TBCRC-048 (Tung 2020)...BMA-BRCA1-SOMATIC-OVARIAN- Somatic BRCA1 loss-of-function variants in advanced EOC confer PARPi sensitivity equivale...BMA-BRCA1-SOMATIC-PDAC- Somatic BRCA1 loss-of-function in metastatic PDAC: POLO trial restricted to germline; som...BMA-BRCA1-SOMATIC-PROSTATE- Somatic BRCA1 loss-of-function in mCRPC: PROfound enrolled both germline and somatic; ola...BMA-BRCA2-SOMATIC-BREAST- Somatic BRCA2 loss-of-function in HER2-neg metastatic breast: TBCRC-048 demonstrated tala...BMA-BRCA2-SOMATIC-MELANOMA- Somatic BRCA2 loss-of-function in melanoma: no PARPi indication; biological rationale onl...BMA-BRCA2-SOMATIC-OVARIAN- Somatic BRCA2 loss-of-function in advanced EOC: PARPi (olaparib, niraparib, rucaparib) ap...BMA-BRCA2-SOMATIC-PDAC- Somatic BRCA2 loss-of-function in metastatic PDAC: POLO germline-only; somatic series sug...BMA-BRCA2-SOMATIC-PROSTATE- Somatic BRCA2 loss-of-function in mCRPC: PROfound included sBRCA; olaparib benefit equiva...BMA-BRIP1-GERMLINE-BREAST- BRIP1 germline pathogenic and breast cancer: weak/uncertain risk association (NCCN does n...BMA-BRIP1-GERMLINE-OVARIAN- BRIP1 (FANCJ) germline pathogenic in EOC: established moderate-risk gene (~RR 3-5); inclu...BMA-BRIP1-SOMATIC-BREAST- Somatic BRIP1 in breast: rare; no actionable indication. ESCAT IV / OncoKB Level 4.BMA-BRIP1-SOMATIC-OVARIAN- Somatic BRIP1 in EOC: HRR panel inclusion; PARPi consideration in HRD-positive context. E...BMA-CHEK1-SOMATIC-OVARIAN- Somatic CHEK1 loss-of-function in EOC: rare (<1%); included in some HRR panel definitions...BMA-CHEK1-SOMATIC-PROSTATE- Somatic CHEK1 loss-of-function in mCRPC: rare; PROfound included CHEK1 in Cohort B but sm...BMA-CHEK2-GERMLINE-BREAST- CHEK2 germline pathogenic (e.g. 1100delC) confers ~2× breast-cancer risk; no PARPi activi...BMA-CHEK2-GERMLINE-PROSTATE- CHEK2 germline pathogenic in mCRPC: included in PROfound Cohort B; olaparib FDA HRR label...BMA-CHEK2-SOMATIC-BREAST- Somatic CHEK2 in breast: minimal PARPi activity; standard subtype-directed therapy. ESCAT...BMA-CHEK2-SOMATIC-PROSTATE- Somatic CHEK2 in mCRPC: PROfound enrolled both g/s; FDA olaparib HRR label includes CHEK2...BMA-FANCA-GERMLINE-OVARIAN- FANCA germline (heterozygous) in EOC: Fanconi-anemia-pathway gene; biallelic loss = Fanco...BMA-FANCL-GERMLINE-OVARIAN- FANCL germline (heterozygous) in EOC: Fanconi-anemia-pathway gene; biallelic loss = Fanco...BMA-PALB2-GERMLINE-BREAST- PALB2 germline pathogenic confers BRCA-like breast risk (~50% lifetime). Olaparib activit...BMA-PALB2-GERMLINE-OVARIAN- PALB2 germline pathogenic in EOC: rare (~1%); biologically HR-deficient. Niraparib NOVA n...BMA-PALB2-GERMLINE-PDAC- PALB2 germline pathogenic in metastatic PDAC: behaves BRCA-like; case series support plat...BMA-PALB2-SOMATIC-BREAST- Somatic PALB2 loss-of-function in breast: small TBCRC-048 cohort included sPALB2 with PAR...BMA-PALB2-SOMATIC-OVARIAN- Somatic PALB2 in EOC: included in HRD-positive populations of niraparib/rucaparib trials....BMA-PALB2-SOMATIC-PDAC- Somatic PALB2 in PDAC: rare; off-label PARPi after platinum response per NCCN HRR-mutated...BMA-PSA-PROSTATE-USPSTF-SHARED-DECISION- PSA screening for prostate cancer carries a USPSTF Grade C recommendation for men aged 55...- ... 16 ще
Тривожна ознака
RF-PROSTATE-HIGH-RISK-BIOLOGY- Germline or somatic BRCA1/2 mutation OR broader HRR pathway alteration (ATM, CDK12, PALB2...