Germline Cancer Predisposition Genes

The following list is based on the 2016 Sanger Centre Cancer Gene Census.

Gene Symbol	Chromosome Band	Cancer Syndrome	Tumour Types Arising
ALK	2p23	familial neuroblastoma	neuroblastoma
APC	5q21	adenomatous polyposis coli; Turcot syndrome	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS
ATM	11q22.3	ataxia-telangiectasia	leukaemia, lymphoma, medulloblastoma, glioma
ATR	3q23	familial cutaneous telangiectasia and cancer sydrome	oropharyngeal
AXIN2	17q24.1	oligodontia-colorectal cancer syndrome	colorectal carcinoma
BAP1	3p21.31-p21.2		mesothelioma, uveal melanoma
BLM	15q26.1	Bloom syndrome	leukaemia, lymphoma, skin squamous cell, other tumour types
BMPR1A	10q22.3	juvenile polyposis	gastrointestinal polyps
BRCA1	17q21	hereditary breast/ovarian cancer	breast, ovarian
BRCA2	13q12	hereditary breast/ovarian cancer	breast, ovarian, pancreatic, leukaemia (FANCB, FANCD1)
BRIP1	17q22	Fanconi anaemia J, breast cancer susceptiblity	AML, leukaemia, breast
BUB1B	15q15	mosaic variegated aneuploidy	rhabdomyosarcoma
CDC73	1q21-q31	hyperparathyroidism-jaw tumour syndrome	parathyroid adenoma, multiple ossifying jaw fibroma
CDH1	16q22.1	familial gastric carcinoma	gastric
CDK4	12q14	familial malignant melanoma	melanoma
CDKN1B	12p13.1-p12	multiple endocrine neoplasia type IV	pituitary, parathyroid
CDKN2A	9p21	familial malignant melanoma	melanoma, pancreatic
CHEK2	22q12.1	familial breast cancer	breast
CYLD	16q12-q13	familial cylindromatosis	cylindroma
DDB2	11p12	xeroderma pigmentosum (E)	skin basal cell, skin squamous cell, melanoma
DICER1	14q32.13	familial pleuropulmonary blastoma or DICER1 syndrome	pleuropulmonary blastoma
EGFR	7p12.3-p12.1	familial lung cancer	NSCLC
ERCC2	19q13.2-q13.3	xeroderma pigmentosum (D)	skin basal cell, skin squamous cell, melanoma
ERCC3	2q21	xeroderma pigmentosum (B)	skin basal cell, skin squamous cell, melanoma
ERCC4	16p13.3-p13.13	xeroderma pigmentosum (F)	skin basal cell, skin squamous cell, melanoma
ERCC5	13q33	xeroderma pigmentosum (G)	skin basal cell, skin squamous cell, melanoma
EXT1	8q24.11-q24.13	multiple exostoses type 1	exostoses, osteosarcoma
EXT2	11p12-p11	multiple exostoses type 2	exostoses, osteosarcoma
FANCA	16q24.3	Fanconi anaemia A	AML, leukaemia
FANCC	9q22.3	Fanconi anaemia C	AML, leukaemia
FANCD2	3p26	Fanconi anaemia D2	AML, leukaemia
FANCE	6p21-p22	Fanconi anaemia E	AML, leukaemia
FANCF	11p15	Fanconi anaemia F	AML, leukaemia
FANCG	9p13	Fanconi anaemia G	AML, leukaemia
FH	1q42.1	hereditary leiomyomatosis and renal cell cancer	leiomyomatosis, renal
FLCN	17p11.2	Birt-Hogg-Dube syndrome	renal, fibrofolliculomas, trichodiscomas
GPC3	Xq26.1	Simpson-Golabi-Behmel syndrome	Wilms tumour
HNF1A	12q24.2	familial hepatic adenoma	hepatic adenoma, hepatocellular carcinoma
HRAS	11p15.5	Costello syndrome	rhabdomyosarcoma, ganglioneuroblastoma, bladder
KIT	4q12	familial gastrointestinal stromal tumour	GIST, epithelioma
LMO1	11p15		neuroblastoma
MAX	14q23		pheochromocytoma
MEN1	11q13	multiple endocrine neoplasia type 1	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid
MLH1	3p21.3	hereditary non-polyposis colorectal cancer, Turcot syndrome	colorectal, endometrial, ovarian, CNS
MPL	1p34	familial essential thrombocythemia	MPN
MSH2	2p22-p21	hereditary non-polyposis colorectal cancer	colorectal, endometrial, ovarian
MSH6	2p16	hereditary non-polyposis colorectal cancer	colorectal, endometrial, ovarian
MUTYH	1p34.3-1p32.1	adenomatous polyposis coli	colorectal
NBN	8q21	Nijmegen breakage syndrome	NHL, glioma, medulloblastoma, rhabdomyosarcoma
NF1	17q12	neurofibromatosis type 1	neurofibroma, glioma
NF2	22q12.2	neurofibromatosis type 2	meningioma, acoustic neuroma
PALB2	16p12.1	Fanconi anaemia N, breast cancer susceptibility	Wilms tumour, medulloblastoma, AML ,breast
PDGFRA	4q11-q13	familial gastrointestinal stromal tumour	GIST
PHOX2B	4p12	familial neuroblastoma	neuroblastoma
PMS1	2q31-q33	hereditary non-polyposis colorectal cancer	colorectal, endometrial, ovarian
PMS2	7p22	hereditary non-polyposis colorectal cancer, Turcot syndrome	colorectal, endometrial, ovarian, medulloblastoma, glioma
POLE	12q24.3		colorectal cancer susceptibility
PRF1	10q22		various leukaemia, lymphoma
PRKAR1A	17q23-q24	Carney complex	myxoma, endocrine, papillary thyroid
PTCH1	9q22.3	nevoid basal cell carcinoma syndrome	skin basal cell, medulloblastoma
PTEN	10q23.3	Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome	harmartoma, glioma, prostate, endometrial
RB1	13q14	familial retinoblastoma	retinoblastoma, sarcoma, breast, small cell lung carcinoma
RECQL4	8q24.3	Rothmund-Thompson syndrome	osteosarcoma, skin basal cell, skin sqamous cell
RET	10q11.2	multiple endocrine neoplasia 2A/2B	medullary thyroid, papillary thyroid, pheochromocytoma
SBDS	7q11	Schwachman-Diamond syndrome	AML, MDS
SDHAF2	11q12.2	familial paraganglioma	paraganglioma
SDHB	1p36.1-p35	familial paraganglioma	paraganglioma, pheochromocytoma
SDHC	1q21	familial paraganglioma	paraganglioma, pheochromocytoma
SDHD	11q23	familial paraganglioma	paraganglioma, pheochromocytoma
SETBP1	18q21.1	Schinzel-Giedion syndrome	neuroepithelial tumours
SMAD4	18q21.1	juvenile polyposis	gastrointestinal polyp
SMARCB1	22q11	rhabdoid predisposition syndrome	malignant rhabdoid
SMARCE1	17q21.2		meningioma
STAT3	17q21.31		paediatric large granular lymphocytic leukaemia
STK11	19p13.3	Peutz-Jeghers syndrome	jejunal hamartoma, ovarian, testicular, pancreatic
SUFU	10q24.32	medulloblastoma predisposition	medulloblastoma
TERT	5p15.33		melanoma
TP53	17p13	Li-Fraumeni syndrome	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types
TSC1	9q34	Tuberous sclerosis 1	hamartoma, renal cell carcinoma, tuberous sclerosis tuber
TSC2	16p13.3	Tuberous sclerosis 2	hamartoma, renal cell carcinoma, tuberous sclerosis tuber
TSHR	14q31		thyroid adenoma
VHL	3p25	Von Hippel-Lindau syndrome	renal, haemangioma, pheochromocytoma
WAS	Xp11.23-p11.22	Wiskott-Aldrich syndrome	lymphoma
WRN	8p12-p11.2	Werner syndrome	osteosarcoma, meningioma, other tumour types
WT1	11p13	Denys-Drash syndrome, Frasier syndrome, familial Wilms tumour	Wilms tumour
XPA	9q22.3	xeroderma pigmentosum (A)	skin basal cell, skin squamous cell, melanoma
XPC	3p25	xeroderma pigmentosum (C)	skin basal cell, skin squamous cell, melanoma