Table 3.
Criteria recommended by the NCCN, ESMO and ASCO-SSO to assess eligibility for gBRCAm testing for individuals with a personal history of BC.a
| NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) (all settings)b [25] |
|---|
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• Any patient diagnosed with BC ≤ 50 years of age • At any age: ∘ TNBC diagnosis ∘ Early BC: to aid in adjuvant treatment decisions with olaparib in high-risk, HER2-negative BC ∘ Metastatic BC: to aid in systemic treatment decisions using PARP inhibitors for BC ∘ Multiple primary BCs (synchronous or metachronous) or lobular BC with personal/family history of diffuse gastric cancer ∘ Male BC ∘ Ashkenazi Jewish ancestry ∘ Based on family history: ▪ ≥1 close relative(s) with BC ≤ 50 years of age, male BC, ovarian, pancreatic or prostate cancer (metastatic, or high/very high-risk group) ▪ ≥3 diagnoses of BC and/or prostate cancer (any grade) on the same side of the family, including the patient with BC |
| ESMO 2023 guideline recommendations [48, 107] |
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• Patients with early BC: ∘ Who are candidates for adjuvant olaparib therapy ∘ Who meet national criteria for germline testing • Patients with metastatic BC: ∘ At first diagnosis of HER2-negative metastatic BC ∘ Following failure of CDK4/6 inhibitor therapy in ER-positive, HER2-negative metastatic BC |
| ASCO–SSO 2024 guideline recommendations [111] |
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• Patients diagnosed with breast cancer ≤65 years of age • Patients >65 years of age diagnosed with breast cancer if: ∘ They are candidates for PARP inhibitor therapy for early-stage or metastatic disease ∘ They have TNBC ∘ Their personal or family history suggests the possibility of a pathogenic variant ∘ They were assigned male sex at birth ∘ They are of Ashkenazi Jewish ancestry or are members of a population with an increased prevalence of founder mutations • At any age: ∘ Patients with a second primary cancer in the contralateral or ipsilateral breast ∘ Patients with recurrent BC (local or metastatic), who are candidates for PARPi therapy, regardless of family history |
ASCO–SSO American Society of Clinical Oncology and Society of Surgical Oncology, BC breast cancer, CDK4/6 cyclin-dependent kinase 4/6, ER oestrogen receptor, ESMO European Society for Medical Oncology, gBRCAm germline breast cancer gene mutation, HER2 human epidermal growth factor receptor 2, NCCN National Comprehensive Cancer Network® (NCCN®), PARP poly(ADP-ribose) polymerase, TNBC triple-negative breast cancer.
aIndividuals may have one or more of the listed criteria, in addition to a personal history of BC.
bGiven the high prevalence of founder gBRCAm in patients with Ashkenazi Jewish heritage, NCCN Guidelines suggest that universal testing for founder BRCA1/2 pathogenic/likely pathogenic variants in individuals of Ashkenazi Jewish ancestry, regardless of personal or family history, should be offered primarily in the setting of longitudinal research studies. If there is no access to longitudinal studies, then testing may be offered when pre- and post-test genetic counselling is available.