MAP3K1

Gene name: mitogen-activated protein kinase kinase kinase 1
OMIM ID: 600982
Chromosome location: 5q11.2

Polymorphisms

Disease/Phenotype	Breast cancer, susceptibility to
Reference transcript	NM_005921.1
DNA Change	c.3190A>C
A.A. Change	p.Arg1064=
Exon/Intron	exon 14
Variation Type	substitution
Reference SNP	rs832583
Cases	226 cases
Controls	200 healthy women
Frequency	Allele/Genotype Frequency in cases Frequency in controls OR (95%CI) P-value CC 130 (57.52%) 137 (68.50%) 1 CA 80 (35.40%) 58 (29.00%) 1.45 (0.96-2.20) 0.0770 AA 16 (7.08%) 5 (2.50%) 3.37 (1.20-9.47) 0.0210
Reference	Marouf C, Göhler S, Filho MI, Hajji O, Hemminki K, Nadifi S, Försti A. Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population. BMC Cancer. 2016 Feb 26;16:165. doi: 10.1186/s12885-016-2210-8.

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