{"entity":{"id":"brca-germline","kind":"biomarker","name":"Germline BRCA1/2 pathogenic variant (gBRCAm)","aka":["gBRCA","gBRCAm","germline BRCA","germline BRCA1","germline BRCA2","BRCA carrier","inherited BRCA mutation","deleterious germline BRCA mutation"],"tldr":"A germline BRCA1 or BRCA2 variant is inherited and present in every cell, found by a blood test. It selects PARP inhibitors in breast, ovarian, pancreatic and prostate cancer and tells relatives they may carry it too.","summary":"Germline testing sequences BRCA1 and BRCA2 from blood or saliva and classifies variants as pathogenic, likely pathogenic, uncertain, likely benign or benign; labels use 'deleterious or suspected deleterious'. Olaparib is labelled for gBRCAm HER2-negative high-risk early breast cancer (adjuvant, OlympiA), gBRCAm HER2-negative metastatic breast cancer, first-line maintenance of gBRCAm metastatic pancreatic cancer, and germline or somatic BRCA-mutated ovarian cancer; talazoparib for gBRCAm HER2-negative advanced breast cancer; niraparib for recurrent gBRCAm ovarian cancer maintenance. BRACAnalysis CDx (Myriad) is the blood companion diagnostic on the FDA list for olaparib, talazoparib and rucaparib. A germline result triggers cascade testing of relatives and risk-reducing surgery discussions.","asOf":"2026-09-23","links":[{"label":"Lynparza prescribing information (DailyMed)","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=741ff3e3-dc1a-45a6-84e5-2481b27131aa"},{"label":"Talzenna prescribing information (DailyMed)","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=13839d4f-6acf-4ffb-a128-79df59319273"}],"tags":["biomarker","brca"],"related":["brca-somatic","hrd-positive"],"cancers":["breast-cancer","tnbc","breast-hr-positive","ovarian","high-grade-serous-ovarian-cancer","pancreatic","prostate-mcrpc"],"sections":[],"technologies":[],"targets":[],"drugs":["olaparib","talazoparib","niraparib","rucaparib","bracanalysis-cdx"],"companies":[],"institutions":[],"pathways":[],"terms":["gbrca-mutation","germline-vs-somatic","hrd"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"target":"brca","measurement":"sequencing-variant","scoringRule":{"text":"A pathogenic or likely pathogenic (deleterious or suspected deleterious) BRCA1 or BRCA2 variant detected in germline DNA from blood by sequencing and large rearrangement analysis.","quote":"deleterious or suspected deleterious gBRCAm human epidermal growth factor receptor 2 (HER2)-negative high risk early breast cancer","source":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=741ff3e3-dc1a-45a6-84e5-2481b27131aa","sourceLabel":"Lynparza prescribing information"},"thresholds":[{"value":"Deleterious or suspected deleterious gBRCAm","drugId":"olaparib","cancerId":"breast-cancer","regulator":"FDA","source":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=741ff3e3-dc1a-45a6-84e5-2481b27131aa","quote":"Lynparza is indicated for the adjuvant treatment of adult patients with deleterious or suspected deleterious gBRCA m human epidermal growth factor receptor 2 (HER2)-negative high risk early breast cancer who have been treated with neoadjuvant or adjuvant chemotherapy.","status":"current"},{"value":"Deleterious or suspected deleterious gBRCAm","drugId":"olaparib","cancerId":"pancreatic","regulator":"FDA","source":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=741ff3e3-dc1a-45a6-84e5-2481b27131aa","quote":"Lynparza is indicated for the maintenance treatment of adult patients with deleterious or suspected deleterious gBRCA m metastatic pancreatic adenocarcinoma whose disease has not progressed on at least 16 weeks of a first-line platinum-based chemotherapy regimen.","status":"current"},{"value":"Deleterious or suspected deleterious gBRCAm","drugId":"talazoparib","cancerId":"breast-cancer","regulator":"FDA","source":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=13839d4f-6acf-4ffb-a128-79df59319273","quote":"As a single agent, for the treatment of adult patients with deleterious or suspected deleterious germline BRCA -mutated (g BRCA m) HER2-negative locally advanced or metastatic breast cancer.","status":"current"},{"value":"Deleterious or suspected deleterious gBRCAmut","drugId":"niraparib","cancerId":"ovarian","regulator":"FDA","source":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=b7f675e2-159c-490c-b6f4-3f16d9492b7d","quote":"ZEJULA is indicated for the maintenance treatment of adult patients with deleterious or suspected deleterious germline BRCA -mutated (g BRCA mut) recurrent epithelial ovarian, fallopian tube, or primary peritoneal cancer who are in a complete or partial response to platinum-based chemotherapy.","status":"current"}],"tests":["mychoice-cdx","tempus-xt"],"assays":["bracanalysis-cdx"],"companionDiagnostics":[{"device":"BRACAnalysis CDx","maker":"Myriad Genetic Laboratories","companyId":"myriad-genetics","drugs":["olaparib"],"indication":"Breast Cancer - Whole Blood","pma":"P140020/S012 (01/12/2018)","source":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools"},{"device":"BRACAnalysis CDx","maker":"Myriad Genetic Laboratories","companyId":"myriad-genetics","drugs":["talazoparib"],"indication":"Breast Cancer - Whole Blood","pma":"P140020/S015 (10/16/2018)","source":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools"},{"device":"BRACAnalysis CDx","maker":"Myriad Genetic Laboratories","companyId":"myriad-genetics","drugs":["olaparib"],"indication":"Ovarian Cancer - Whole Blood","pma":"P140020 (12/19/2014)","source":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools"},{"device":"BRACAnalysis CDx","maker":"Myriad Genetic Laboratories","companyId":"myriad-genetics","drugs":["olaparib"],"indication":"Pancreatic Cancer - Whole Blood","pma":"P140020/S019 (12/27/2019)","source":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools"},{"device":"BRACAnalysis CDx","maker":"Myriad Genetic Laboratories","companyId":"myriad-genetics","drugs":["olaparib"],"indication":"Metastatic Castrate Resistant Prostate Cancer (mCRPC) - Whole Blood","pma":"P140020/S020 (05/19/2020)","source":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools"}],"forPatient":"A pathogenic germline BRCA result means the change is inherited. For your treatment it opens PARP inhibitor tablets (olaparib, talazoparib, niraparib or rucaparib depending on the cancer), including a year of olaparib after chemotherapy in high-risk early breast cancer. For your family it means close relatives can be tested and, if positive, offered screening or preventive surgery. A 'variant of uncertain significance' is not a positive result."},"route":"/biomarkers/brca-germline/","neighbours":{"biomarker":[{"id":"hrd-positive","kind":"biomarker","name":"HRD-positive (genomic instability score)","route":"/biomarkers/hrd-positive/"},{"id":"brca-somatic","kind":"biomarker","name":"Tumour (somatic or germline) BRCA1/2 mutation and HRR gene alterations","route":"/biomarkers/brca-somatic/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"high-grade-serous-ovarian-cancer","kind":"cancer","name":"High-grade serous ovarian cancer","route":"/cancers/high-grade-serous-ovarian-cancer/"},{"id":"breast-hr-positive","kind":"cancer","name":"HR-positive / HER2-negative breast cancer","route":"/cancers/breast-hr-positive/"},{"id":"prostate-mcrpc","kind":"cancer","name":"Metastatic castration-resistant prostate cancer","route":"/cancers/prostate-mcrpc/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"tnbc","kind":"cancer","name":"Triple-negative breast cancer (TNBC)","route":"/cancers/tnbc/"}],"drug":[{"id":"bracanalysis-cdx","kind":"drug","name":"BRACAnalysis CDx","route":"/drugs/bracanalysis-cdx/"},{"id":"niraparib","kind":"drug","name":"Niraparib","route":"/drugs/niraparib/"},{"id":"olaparib","kind":"drug","name":"Olaparib","route":"/drugs/olaparib/"},{"id":"rucaparib","kind":"drug","name":"Rucaparib","route":"/drugs/rucaparib/"},{"id":"talazoparib","kind":"drug","name":"Talazoparib","route":"/drugs/talazoparib/"}],"term":[{"id":"gbrca-mutation","kind":"term","name":"Germline BRCA mutation (gBRCA)","route":"/terms/gbrca-mutation/"},{"id":"germline-vs-somatic","kind":"term","name":"Germline vs somatic mutations","route":"/terms/germline-vs-somatic/"},{"id":"hrd","kind":"term","name":"Homologous recombination deficiency (HRD)","route":"/terms/hrd/"}],"target":[{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","route":"/targets/brca/"}]}}