Prevalence of the E318K and V320I MITF germline mutations in Polish cancer patients and multiorgan cancer risk-a population-based study.
The E318K mutation in the MITF gene has been associated with a high risk of melanoma, renal cell carcinoma, and pancreatic cancer; the risk of other cancers has not been evaluated so far. Herein, we examined the possible association of E318K and a novel variant of the MITF gene, V320I, with the risk of cancers of different sites of origin in a Polish population. We assayed for the presence of the E318K and V320I missense mutations in 4,226 patients with one of six various cancers (melanoma or cancer of the kidney, lung, prostate, colon, or breast) and 2,114 controls from Poland. The E318K mutation was detected in 4 of 2,114 participants (0.19%) in the Polish control population, the V320I in 3 of 2,114 participants (0.14%) in the control group. We found no statistically significant differences in the prevalence of the E318K and V320I variants among cases and controls. We found two carriers of the E318K variant among melanoma patients (P = 0.95), one carrier among breast cancer patients (P = 0.77), one carrier among colorectal cancer patients (P = 0.82), and one carrier among kidney cancer patients (P = 0.64). Our study demonstrates a lack of strong association of E318K and V320I with increased risk of melanoma or cancers of the kidney, breast, prostate, lung, or colon.
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. Electronic address: tomaszbiotech@gmail.com.
Tomasz
T
Gromowski
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Bartłomiej
B
Masojć
Discipline of Medical Genetics, Faculty of Health, University of Newcastle and Hunter Medical Research Institute, Newcastle, NSW, Australia.
Rodney J
RJ
Scott
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Cezary
C
Cybulski
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Bohdan
B
Górski
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Wojciech
W
Kluźniak
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Katarzyna
K
Paszkowska-Szczur
Regional Hospital, Zielona Góra, Poland.
Andrzej
A
Rozmiarek
Chair and Clinic of Mother's and Child's Health, Medical University, Poznań, Poland.
Bogusław
B
Dębniak
Department of Dermatology and Venereology, Pomeranian Medical University, Szczecin, Poland.
Romuald
R
Maleszka
Department of General and Oncological Surgery, Pomeranian Medical University, Szczecin, Poland.
Józef
J
Kładny
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Jan
J
Lubiński
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Tadeusz
T
Dębniak
D000368:Aged; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics; D016009:Chi-Square Distribution; D003110:Colonic Neoplasms / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000453:epidemiology / Q000235:genetics; D008175:Lung Neoplasms / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics; D051739:Microphthalmia-Associated Transcription Factor / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D009369:Neoplasms / Q000453:epidemiology / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D011159:Population Surveillance; D015995:Prevalence; D011471:Prostatic Neoplasms / Q000453:epidemiology / Q000235:genetics; D012307:Risk Factors
C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor
E318K; MITF; c.952G>A; microphthalmia-associated transcription factor, melanoma