Latest Cancer TreatmentsDr. Mohammadreza Dabiri
Dr. Mohammadreza Dabiriفارسی
Physician lesson

Germline genetic testing in cancer: who, and which genes?

BRCA, Lynch syndrome and multigene panels in breast, ovarian, pancreatic, prostate and bowel cancer

Updated: 28 October 20261 min read5 references

Key points

  • Breast: BRCA1/2 for all newly diagnosed patients aged 65 or under, and most older patients who meet criteria (triple-negative, PARP inhibitor candidate, family history, male) [1].
  • Ovarian and pancreatic: for all patients [2, 3].
  • Prostate: all patients with metastatic disease [4].
  • Colorectal and endometrial: tumour MMR/MSI testing in everyone, to screen for Lynch syndrome [5].

Criteria

Who?
CancerCriteria for germline testingGenes
Breast [1]All newly diagnosed aged 65 or under; over 65 with criteria; all men; PARP inhibitor candidates; recurrenceBRCA1/2; a panel with PALB2, TP53, PTEN, CDH1, STK11, CHEK2, ATM
Epithelial ovarian [2]All patientsBRCA1/2 and other predisposition genes; if negative, tumour BRCA
Pancreatic [3]All patientsA multigene panel (BRCA1/2, PALB2, ATM, CDKN2A, Lynch genes)
Prostate [4]All metastatic; localised high-risk or with a family historyBRCA2, BRCA1, ATM, CHEK2, Lynch genes, HOXB13
Colorectal and endometrial [5]Tumour MMR/MSI testing in everyone; if dMMR without MLH1 methylation or BRAF mutation: germline testingMLH1, MSH2, MSH6, PMS2, EPCAM

After a positive result

Genetic counselling, targeted testing of first-degree relatives (cascade testing) and a prevention plan: in BRCA, MRI and mammography from a younger age and risk-reducing removal of the ovaries and tubes at the right time; in Lynch syndrome, colonoscopy every 1 to 2 years [1, 5]. A negative result or a variant of uncertain significance (VUS) should not change management [1].

For patients: Is cancer hereditary?

Related cancer types

Breast cancerColorectal cancerProstate cancerPancreatic cancerOvarian cancer

Treatment regimens (physicians)

FOLFOX (mFOLFOX6): dose, schedule and side effectsCAPOX (XELOX): dose, schedule and side effectsFOLFIRI regimen: dose, schedule and side effectsFOLFIRINOX and mFOLFIRINOX: dose and side effectsGemcitabine with nab-paclitaxel: dose and scheduleGemcitabine-cisplatin with durvalumab in biliary tract cancerAC followed by paclitaxel (dose-dense and weekly)Total neoadjuvant therapy (TNT) in rectal cancer: the RAPIDO regimenFOLFOXIRI with bevacizumab in metastatic bowel cancerTC regimen (docetaxel and cyclophosphamide): dose and scheduleTCHP regimen: dose and schedule in HER2-positive breast cancerWeekly paclitaxel with trastuzumab (APT regimen)

Physician tools and lessons

Cumulative Anthracycline Dose and Doxorubicin EquivalentsKhorana Score (Cancer-Associated Thrombosis Risk)Localised Prostate Cancer Risk Group CalculatorColon Cancer TNM Staging Calculator (AJCC 8th Edition)10 cheap steps that save patients' livesBone-modifying agents in cancer: bone metastases, adjuvant use and osteonecrosis of the jawManagement of brain metastasesFertility preservation before cancer treatmentMalignant pleural effusion: drainage, pleurodesis or an indwelling catheterCancer during pregnancy: chemotherapy and decisions

References

5 references
Show all references, 1 with a study cardClose the reference list

Numbers in the text, such as [1], refer to these sources. Sources with a “Study card” button are summarised in the site’s evidence library.

  1. 1
    Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology GuidelineBedrosian I, Somerfield MR, Achatz MI, et al · J Clin Oncol · 2024;42:584-604
    DOIPubMed Back to text: 1 2 3 4
  2. 2
    Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO GuidelineKonstantinopoulos PA, Norquist B, Lacchetti C, et al · J Clin Oncol · 2020;38:1222-1245
    DOIPubMed Back to text: 1 2
  3. 3
    Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical OpinionStoffel EM, McKernin SE, Brand R, et al · J Clin Oncol · 2019;37:153-164
    Study cardDOIPubMed Back to text: 1 2
  4. 4
    Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019Giri VN, Knudsen KE, Kelly WK, et al · J Clin Oncol · 2020;38:2798-2811
    DOIPubMed Back to text: 1 2
  5. 5
    Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relativesGenet Med · 2009;11:35-41
    DOIPubMed Back to text: 1 2 3

This page is based on reputable scientific sources and was last updated on 28 October 2026. The content of this website is for educational and informational purposes only and does not replace consultation, diagnosis or treatment by a specialist physician. Consult your treating physician about any treatment decision.

Printed from the website; the full and up-to-date version: https://drdabiri.com/en/learn/hereditary-cancer-genetic-testing/

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