Table 3. Genetic subtypes in FA Subtype... | American Society of Hematology

Table 3.

Genetic subtypes in FA

Subtype	Reference cell line	Defective gene	Mutations	Function with respect to FANCD2 ubiquitination	References
A	HSC72	FANCA	E18-28del Hom	Upstream	Joenje et al,⁵ Lo Ten Foe,⁷ Fanconi Anaemia/Breast Cancer Consortium,⁸ Garcia-Higuera et al,¹⁵ Duckworth-Rysiecki et al²⁴
B	HSC230	FANCB^*	—	Upstream	Howlett et al,¹³ Garcia-Higuera et al,¹⁵ Strathdee et al¹⁷
C	HSC536	FANCC	L554P E1-2del	Upstream	Strathdee et al,^9,17 Garcia-Higuera et al¹⁵
D1	HSC62	BRCA2/FANCD1	IVS19-1G>A Hom	Downstream†	Howlett et al,¹³ Garcia-Higuera et al,¹⁵ Strathdee et al¹⁷
D2	PD20	FANCD2	376A>G R1236H	—	Timmers,⁶ Garcia-Higuera et al,¹⁵ Whitney et al²⁵
E	EUFA130‡	FANCE	Q119X Hom	Upstream	De Winter et al,¹⁰ Garcia-Higuera et al,¹⁵ Joenje et al¹⁶
F	EUFA121	FANCF	349-395del Q6X	Upstream	Joenje et al,⁴ De Winter et al,¹¹ Garcia-Higuera et al¹⁵
G	EUFA143	XRCC9/FANCG	E105X Hom	Upstream	Joenje et al,⁴ De Winter et al,¹² Garcia-Higuera et al¹⁵
I	EUFA592	FANCI	—	Upstream	Current study
J	EUFA543	FANCJ	—	Downstream†	Current study
L	EUFA868	FANCL	IVS10-9ins177 (Ex11del)	Upstream	Meetei et al¹⁴

Subtype	Reference cell line	Defective gene	Mutations	Function with respect to FANCD2 ubiquitination	References
A	HSC72	FANCA	E18-28del Hom	Upstream	Joenje et al,⁵ Lo Ten Foe,⁷ Fanconi Anaemia/Breast Cancer Consortium,⁸ Garcia-Higuera et al,¹⁵ Duckworth-Rysiecki et al²⁴
B	HSC230	FANCB^*	—	Upstream	Howlett et al,¹³ Garcia-Higuera et al,¹⁵ Strathdee et al¹⁷
C	HSC536	FANCC	L554P E1-2del	Upstream	Strathdee et al,^9,17 Garcia-Higuera et al¹⁵
D1	HSC62	BRCA2/FANCD1	IVS19-1G>A Hom	Downstream†	Howlett et al,¹³ Garcia-Higuera et al,¹⁵ Strathdee et al¹⁷
D2	PD20	FANCD2	376A>G R1236H	—	Timmers,⁶ Garcia-Higuera et al,¹⁵ Whitney et al²⁵
E	EUFA130‡	FANCE	Q119X Hom	Upstream	De Winter et al,¹⁰ Garcia-Higuera et al,¹⁵ Joenje et al¹⁶
F	EUFA121	FANCF	349-395del Q6X	Upstream	Joenje et al,⁴ De Winter et al,¹¹ Garcia-Higuera et al¹⁵
G	EUFA143	XRCC9/FANCG	E105X Hom	Upstream	Joenje et al,⁴ De Winter et al,¹² Garcia-Higuera et al¹⁵
I	EUFA592	FANCI	—	Upstream	Current study
J	EUFA543	FANCJ	—	Downstream†	Current study
L	EUFA868	FANCL	IVS10-9ins177 (Ex11del)	Upstream	Meetei et al¹⁴

For approved nomenclature rules of FA gene symbols, see http://www.gene.ucl.ac.uk/nomenclature/genefamily/fanconi.html. — indicates not known or not relevant.

Sequence alterations were found in BRCA2 in one FA-B cell line (HSC230), but not in another (EUFA178). The status of BRCA2 as a disease gene for complementation group B remains to be assessed

†

BRCA2 and FANCJ also may function independently of the FA pathway rather than being an integrated part of it²³

‡

Mislabeled as EUFA121 in Table 1 of De Winter et al.¹⁰

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