Table 1.

Cancer Susceptibility Genes Other Than BRCA1/2

Cancer Susceptibility Gene	Breast Cancer RR (90% CI when available) or Inclusion Criteria
Breast
ATM	2.8 (2.2 to 3.7)35
BARD1	Breast cancer association reported; RR not yet determined17,46,47
BRIP1	2.0 (1.3 to 3.0)48; ovarian cancer RR 11.29
CDH1	6.6 (2.2 to 19.9)49
CHEK2	3.0 (2.6 to 3.5)35; most data for 1100delC
NBN	2.7 (1.9 to 3.7)35
PALB2	5.3 (3.0 to 9.4)35
PTEN	RR 2.0-5.050,51
STK11	RR 2.0-4.052,53
TP53	105 (62 to 165)35
Other
APC	Familial adenomatous polyposis
BMPR1A	Juvenile polyposis syndrome
CDK4	Melanoma syndrome
CDKN2A	Melanoma and pancreas cancer syndrome
EPCAM	Lynch syndrome
MLH1	Lynch syndrome
MSH2	Lynch syndrome
MSH6	Lynch syndrome
MUTYH*	MUTYH-associated polyposis
PMS2	Lynch syndrome
RAD51C	Ovarian cancer RR 5.2-6.311-13
RAD51D	Ovarian cancer RR 6.3-1212,15
SMAD4	Juvenile polyposis syndrome

Abbreviations: APC, adenomatous polyposis coli; ATM, ataxia telangiectasia mutated; BARD1, BRCA1-associated RING domain 1; BMPR1A, bone morphogenetic protein receptor, type 1A; BRCA1/2, early-onset breast cancer genes BRCA1 and BRCA2; BRIP1, BRCA1 interacting protein C-terminal helicase 1; CDH1, E-cadherin; CDK4, cyclin-dependent kinase 4; CDKN2A, cyclin-dependent kinase inhibitor 2A; CHEK2, checkpoint kinase 2; EPCAM, epithelial cell adhesion molecule; MLH1, mutL homolog 1; MSH2, mutS homolog 2; MSH6, mutS homolog 6; MUTYH, biallelic mutY homolog; NBN, nibrin; PALB2, partner and localizer of BRCA2; PMS2, PMS2 postmeiotic segregation increased 2; PTEN, phosphatase and tensin homolog; RAD51C, RAD51 paralog C; RAD51D, RAD51 paralog D; RR, relative risk; SMAD4, SMAD family member 4; STK11, serine/threonine kinase 11; TP53, tumor protein 53.

^*Only tumors with biallelic MUTYH mutations were considered for this analysis.