Mutation screening of the RNF8, UBC13 and MMS2 genes in Northern Finnish breast cancer families

BMC Medical Genetics

Table 1 Key operators in the BRCA1-dependent ubiquitin -mediated DNA damage recognition pathway and their currently known role in breast cancer predisposition

Gene	Previous studies on the role in breast cancer predisposition	Disease related alterations
RNF8	Not done	-
RNF168	Not done ^a	-
UBC13	Not done
RAP80	Mutation screening [21, 27–29]	del81E [21]
Abraxas	Mutation screening [27, 29]	N. I.
MERIT40	Mutation screening [30] GWAS [22]	N. I. rs8170 [22]
BRCC45	Not done	-
BRCC36	Not done	-

^a Homozygous mutations in this gene have been demonstrate to result in RIDDLE syndrome [12]
GWAS, genome wide association study; N. I., not identified

ISSN: 1471-2350