Literature summary for 1.6.5.2 extracted from

Fagerholm, R.; Hofstetter, B.; Tommiska, J.; Aaltonen, K.; Vrtel, R.; Syrjaekoski, K.; Kallioniemi, A.; Kilpivaara, O.; Mannermaa, A.; Kosma, V.M.; Uusitupa, M.; Eskelinen, M.; Kataja, V.; Aittomaeki, K.; von Smitten, K.; Heikkilae, P.; Lukas, J.; Holli, K.; Bartkova, J.; Blomqvist, C.; Bartek, J.
NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer (2008), Nat. Genet., 40, 844-853.

Application

Application	Comment	Organism
medicine	NQO1 guards against oxidative stress and carcinogenesis and stabilizes p53, a homozygous common missense variant, NQO1*2, P187S that disables NQO1 predicts poor survival of women with breast cancer, NQO1 deficiency implicates cancer progression and treatment resistance to epirubicin, the NQO1 status is important for the response to epirubicin, ionizing radiation or 5-FU is not, NQO1 genotype is a prognostic and predictive marker for breast cancer	Homo sapiens

Protein Variants	Comment	Organism
additional information	P187S protein undergoes rapid turnover via the ubiquitin proteasomal pathway, cells with the homozygous NQO1*2 genotype have no measurable NQO1 activity	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	breast cancer patients	-

Source Tissue	Comment	Organism	Textmining
B-lymphoblastoid cell line	wild-type p53immortalized B-cell lymphoblasts from individuals with heterozygous NQO1; homozygous NQO1+/- and missing NQO1, LBL51	Homo sapiens	-
leukocyte	for genotyping	Homo sapiens	-
MCF-7 cell	wild-type p53 breast cancer cell lines MCF7 transfected with MCF7-NQO1 to overexpress NQO1, MCF7-SUP8 to knockdown NQO1	Homo sapiens	-
U2-OS cell	p53 mutant MDA-MB-157 and MDAMB-231, dominant negative p53	Homo sapiens	-

Synonyms	Comment	Organism
NADPH:quinone oxidoreductase 1	wild type NQO1, variant NQO1*2 induces an amino acid change P187S	Homo sapiens
NQO1	-	Homo sapiens