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A test of the DNA you were born with, to find inherited risk genes such as BRCA or Lynch syndrome.
Germline testing sequences DNA from blood or saliva by next-generation sequencing to find inherited pathogenic variants, as distinct from tumour-only sequencing that picks up acquired mutations. Multi-gene hereditary panels (BRCA1/2, PALB2, TP53, Lynch genes, CDH1, ATM, CHEK2) are recommended for all TNBC, ovarian, pancreatic, and metastatic prostate cancer patients and increasingly for all breast cancer. Findings change surgery, drug choice (PARP inhibitors), and family screening, because relatives can be cascade-tested and offered surveillance or risk-reducing measures. The test itself is cheap and actionable, but variants of uncertain significance remain a burden and counselling capacity limits uptake. The simple version is that this test reads the DNA a person was born with, and a positive result can protect a whole family, not just one patient.
NGS of blood or saliva DNA identifies pathogenic germline variants.
The inherited BRCA test that decides who can have PARP inhibitor pills for ovarian, breast, pancreatic and prostate cancer.
A very low CA 19-9 is not reassurance: it marks the non-producer group whose outlook matches the highest-marker group, and it gives clinics a rule they can apply without genotyping.
This is what the NHS R208 pathway yields in practice: a one-in-seven positive rate among the eligible, at the cost of clinician time spent on eligibility scoring.
Answers the two questions that hung over adjuvant olaparib, durability and late leukaemia, in its favour; the remaining question is whether carriers who also received pembrolizumab or capecitabine, whom the trial did not study, get the same benefit.
An argument for universal rather than criteria-based germline testing at diagnosis, with turnaround fast enough to inform surgery; for TNBC patients, who are already eligible, the lesson is timing.
Platinum and immunotherapy are now consensus for early triple-negative disease; the open votes have moved to who can safely receive less.
For TNBC, which is diagnosed young and is the PARP inhibitor-eligible subtype, the guideline makes germline testing part of the diagnostic workup rather than a referral decision.
Confirms that the TROP2 antibody-drug conjugates are given without a TROP2 test and that PD-L1 remains the one selection assay in metastatic triple-negative disease, which is why assay harmonisation matters.
The survival result that moved adjuvant olaparib from a disease-free survival approval to an undisputed standard, and the reason germline testing at diagnosis of triple-negative breast cancer is now a treatment decision rather than a family history exercise.
Query for this technology: (TITLE:"germline testing" OR ABSTRACT:"germline testing" OR TITLE:"hereditary cancer" OR ABSTRACT:"hereditary cancer" OR TITLE:"germline pathogenic variant" OR ABSTRACT:"germline pathogenic variant"). Results are unfiltered search hits about Germline (hereditary) testing, not a curated reading list.
Shares Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing, Implementation and audit of mainstream genetic testing within a high-volume UK breast unit for pathogenic variations associated with breast cancer using the R208 and R444.1 National Test Directory criterion, Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis and poor survival outcomes in prostate cancer, Germline testing in patients with breast cancer: ASCO-Society of Surgical Oncology guideline.
Shares Germline BRCA test → adjuvant PARP inhibitor, Germline testing in patients with breast cancer: ASCO-Society of Surgical Oncology guideline, Susan M. Domchek, Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
Shares Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer, Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer, Prospective evaluation of germline alterations in patients with exocrine pancreatic neoplasms, Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma.
Shares Inherited breast cancer in Nigerian women, The impact of expanded access to germline high penetrance genetic testing for women with a new diagnosis of invasive breast cancer or high-grade DCIS, Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing, Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Shares Germline BRCA test → adjuvant PARP inhibitor, Jennifer K. Litton, Mary-Claire King, Sustained benefit of adjuvant olaparib in women with germline BRCA1- and BRCA2-associated high-risk HER2-negative early breast cancer: updated results from the OlympiA phase III trial.
Shares Family history collected by app and matched to testing criteria automatically, A chatbot for pre-test genetic counselling so counsellors see only who needs them, Ban life and disability insurers from using genetic results, Build polygenic scores that work in every ancestry before deploying any.
Shares Jennifer K. Litton, Germline testing in patients with breast cancer: ASCO-Society of Surgical Oncology guideline, Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer, Huntsman Cancer Institute, University of Utah.
Shares Germline BRCA test → adjuvant PARP inhibitor, Judy E. Garber, A UK audit of trial access and germline testing uptake in triple-negative breast cancer, Sustained benefit of adjuvant olaparib in women with germline BRCA1- and BRCA2-associated high-risk HER2-negative early breast cancer: updated results from the OlympiA phase III trial.
Open-source projects that implement or serve this technology, from OnCo's own catalogue: licence and last activity as the repository reported them on the day of the fetch. Listing is not endorsement; check the licence before reuse and the validation before clinical use.
The germline companion to PCGR: reports variants in cancer predisposition genes with ACMG-style classification.