Table 3.

Hereditary genetic syndromes predisposing, in part, to blood cancers including B-cell lymphoma and multiple myeloma.

Gene symbol	Gene name	Cancer syndrome	Blood cancer (%)
Group 11
ATM	ATM serine/threonine kinase	Ataxia teleangiectasia	30–40
BLM	Bloom syndrome, RecQ like helicase	Bloom syndrome	15
FANCA	FA complementation group A	Fanconi anemia	7–13
MLH1	MutL homolog 1	Constitutional mismatch repair deficiency	33
MSH2	MutS homolog 2
MSH6	MutS homolog 6
PMS2	PMS1 homolog 2, mismatch repair system component
NBN	Nibrin	Nijmegen breakage syndrome	40
NF1	Neurofibromin 1	Neurofibromatosis 1	30–40
PTPN11	Protein tyrosine phosphatase, non-receptor type 11	Noonan syndrome	1
TP53	Tumor protein p53	Li-Fraumeni syndrome	2–4
Group 22
BTK	Bruton tyrosine kinase	X-linked agammaglobulinemia	Unknown
CTLA43	Cytotoxic T-lymphocyte associated protein/antigen 4	Lymphoma predisposition	6
ETV6	ETS variant 6	Familial leukemia	Unknown
FAS	Fas cell surface death receptor	Autoimmune lymphoproliferative syndrome	8–12
FASLG	Fas ligand
CASP10	Caspase 10
KLHDC8B	Kelch domain containing 8B	Lymphoma predisposition	Unknown
PAX5	Paired box 5	Leukemia predisposition	Unknown
RBM8A	RNA binding motif protein 8A	Thrombocytopenia absent radius syndrome	1
SBDS	SBDS, ribosome maturation factor	Shwachman-Diamond syndrome	30–40
SH2B3	SH2B adaptor protein 3	Leukemia predisposition	Unknown
SH2D1A	SH2 domain containing 1A	X-linked lymphoproliferative disease	24
WAS	Wiskott-Aldrich syndrome	WAS-related disorders	2–13

¹Genes associated with increased risk for liquid and solid neoplasms. ²Genes associated primarily with risk for blood cancers. ³Newly recognized. For details see: Egg et al., 2018.