Table 2.

Representative cancers associated with ATM and CHEK2 variants.

	Life-time risk (LTR) in general population	LTR in ATM carriers	ATM truncating variants (and missense variants)	Case series/case control studies	LTR in CHEK2 carriers	LTR CHEK2 ●Truncating 1100delC/ ●Missense I157T	Case series/case control studies
BC ER+	12.9%	17–52%	x (C.7271T > G specific consideration)	13087 BCs vs 5952 controls [35]	23–48% [76]	● 31.8% ● 18.3%	13087 BCs vs 5952 controls [35]
Second primary within 10 years of first BC diagnosis	4%	-	-		Up to 29%	x	25571 BC (459 CHEK2) vs 25112 BC non carriers [54]
Ovarian cancer	1.2%	<3% Absolute risk	x	7768 OCs [27]	Data not correlated	Data not correlated	–
Pancreas cancer	1%	5–10% Absolute risk	x	−3030 pancreatic cancers [77]	Data not correlated	Data not correlated	–
Prostate Cancer	12.1%	Still under investigation	x	692 men with metastatic PCA [61]	Still under investigation	x	692 mPCA [61]
CRC	5%	Not well established	-	680 CRC vs 27728 cancer free adults [31]	Robust evidence	Not well established	5000 cases vs 5000 [58]
Renal Cell Carcinoma (RCC)	1.4%	Data not correlated	-	-	Not well-established	X*	254 RCC [59]
Thyroid cancer (papillary) (TC)	1%	Data not correlated	-	-	Not well-established	X*	468 TC vs 468 controls [62]
Male breast cancer (MBC)	0.1%	Data not correlated	-	-	0.4–1%	X*	715 MBC [60]
Testicular germ cell tumours (TGCT)	0.4%	Data not correlated	-	-	Not well-established	X*	250 TGCTvs 27173 controls [63]
Gastric cancer (GC)	0.8%	Not well established	–	4543 GCs vs 508185 controls [30]	Data not correlated	Data not correlated	–
Melanoma	2.3%	Under investigation	Under investigation	165000 high risk patients [32]	Under investigation	Under investigation	165000 high risk patients [32]

*Preliminary data.