Table 4.

Prevalence of pathogenic or likely pathogenic variants in patients with various cancer types

Cohort	Prevalence of pathogenic or likely pathogenic germline cancer susceptibility gene variants	Most common genes with germline pathogenic variants	References
Epithelial ovarian/fallopian tube cancer	18.1–23.6%	6.4–9.5% BRCA1, 5.1–6.3% BRCA2, 0.6–1.4% CHEK2, 1.1–1.4% BRIP1	[48, 49]
Breast cancer	9.3%	2.3% BRCA1, 2.3% BRCA2, 1.1% CHEK2, 0.9% ATM, 0.9% PALB2	[51]
Breast cancer (stage I–III)	10.7%	3.7% BRCA1, 2.5% BRCA2, 2.1% CHEK2, 0.8% ATM, 0.8% BRIP1	[102]
Breast cancer (triple negative)	14.1–14.6%	7.2–8.5% BRCA1, 2.6–2.7% BRCA2, 1.2–1.3% PALB2	[51, 52]
Colorectal cancer	9.9%	3.1% Lynch, 1.7% monoallelic MUTYH, 1.3% APC p.I1307K, 0.9% ATM, 0.8% BRCA2	[12]
Cohort	Prevalence of pathogenic or likely pathogenic germline cancer susceptibility gene variants	Most common germline variants	References
Colorectal cancer (age < 50 years)	16.0–18.3%	8.4–13% Lynch, 1.6% monoallelic MUTYH, 0.2–2.3% APC, 0.9% APC p.I1307K, 0.9–1.9% bi-allelic MUTYH, 0.5% SMAD4, 0.2% TP53, 0.2% CHEK2, 0.2–0.9% BRCA1/2	[2, 24]
Pancreatic cancer	3.8–8.4%	0.7–4.0% BRCA2, 1.0–2.0% ATM, 0–1.4% Lynch, 0.3–0.4% BRCA1	[53–56]
Prostate cancer (metastatic)	11.8%	5.3% BRCA2, 1.6% ATM, 1.9% CHEK2, 0.9% BRCA1	[50]
Endometrial cancer	9.2%	5.8% Lynch, 1.0% CHEK2	[11]