Table 2 Genes with rare variants associated with an increased breast cancer risk

From: Personalized early detection and prevention of breast cancer: ENVISION consensus statement

Gene

PTV associated with breast cancer risk

Missense variants associated with breast cancer risk

Relative risk for PTV (90% CI)

Clinical Genome Resource (ClinGen) definition of clinical relevance

ATM

Yes

Yes

2.8 (2.2–3.7)

Definitive

BARD1

Likely

Unknown

2.1 (1.5–3.0)48

Definitive

BRCA1

Yes

Yes

11.4 (NA)

Definitive

BRCA2

Yes

Yes

11.7 (NA)

Definitive

CDH1

Yes

Unknown

6.6 (2.2–19.9)

Definitive

CHEK2

Yes

Yes

3.0 (2.6–3.5)

Definitive

NBN

Yes

Unknown

2.7 (1.9–3.7)

Limited

NF1

Yes

Unknown

2.6 (2.1–3.2)

Not evaluated

PALB2

Yes

Unknown

5.3 (3.0–9.4)

Definitive

PTEN

Yes

Yes

8.8 (2.7–34.4)48

Definitive

RAD51D

Likely

Unknown

2.1 (1.2–3.72)48

Limited

STK11

Yes

Unknown

No reliable estimate

Definitive

TP53

Yes

Yes

105 (62–165)

Definitive

  1. Data were sourced from Easton et al.42 and Lee et al.57, with risk estimates derived from Easton et al.42, except where indicated otherwise. Note that risk estimates calculated by LaDuca et al.48 come with 95% confidence intervals (CIs) and are derived from a study of individuals referred for testing and, therefore, might not be unbiased estimates of the general population risk. NA, not available; PTV, protein-truncating variants.
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