Institute of Oncology, Riga, Latvia

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Presentation transcript:

Institute of Oncology, Riga, Latvia IMPACT OF LOW PENETRANCE VARIANTS ON BREAST CANCER MORBIDITY AND PROGNOSIS M. Ustinova, L. Kalniņa, M. Nakzawa-Miklaševiča, Z. Daneberga, E. Miklaševičs, J. Gardovskis Institute of Oncology, Riga, Latvia The National Research Programme «Biomedicine for Public Health» 25.05.2016.

BREAST CANCER Leading cancer site The main cause of cancer related death

BREAST CANCER Leading cancer site The main cause of cancer related death

GENETIC ALTERATIONS ASSOCIATED WITH BREAST CANCER (Garcia-Closas and Chanock 2008)

GENETIC ALTERATIONS ASSOCIATED WITH BREAST CANCER 75 (Garcia-Closas and Chanock 2008)

THE AIM OF THE STUDY To determine the impact of four low-penetrance variants on breast cancer morbidity and prognosis in population of Latvia.

LOW-PENETRANCE ALLELIC VARIANTS Alleles Localization MAF rs9693444 C/A Chr8:29509616 RPL17P33 / LINC00589 0.32 rs1436904 T/G Chr18:22824665 CHST9 intron 0.40 rs616488 A/G Chr1:10488802 PEX14 intron 0.33 rs204247 Chr6:13830502 RANBP9 0.43

STUDY GROUPS PATIENT GROUP CONTROL GROUP 2,214 European descent breast cancer patients with no proven founder variants c.181T>G, c.4035delA and c.5266dupC in the BRCA1 gene and/or positive family history of disease CONTROL GROUP 861 European descent voluntary women without any oncologic illnesses detected at the time of application

METHODS RFLP TaqMan probes Sanger sequencing DNA isolation from peripheral blood leukocytes Genotyping: RFLP and TaqMan probes Verification of methods by Sanger sequencing Data collection Sanger sequencing

Results

MINOR ALLELE FREQUENCIES

rs1436904 48.6% breast cancer patients 47.1% controls. Heterozygotes OR = 0.79; 95% CI = 0.63 – 1.00. Homozygotes OR = 0.62; 95% CI = 0.45 – 0.87. p = 0.008 Protective effect

rs9693444 52.4% breast cancer patients 44.2% controls. Heterozygotes OR = 1.39; 95% CI = 1.11 – 1.75. Homozygotes OR = 1.44; 95% CI = 0.98 – 2.13. p = 0.005 Increased breast cancer risk

rs204247 31.59% of breast cancer patients and 24.89% of control women. Heterozygotes OR = 0.88 95% CI = 0.68 – 1.14 Homozygotes OR = 1.04 95% CI = 0.75 – 1.45 p = 0.423 No statistically significant effect

rs616488 49.96% of breast cancer patients and 46.74% control women. Heterozygotes OR = 0.86; 95% CI = 0.68 – 1.09 Homozygotes OR = 0.84; 95% CI = 0.57-1.25 p = 0.367 No statistically significant effect

SURVIVAL DATA

SURVIVAL DATA

SURVIVAL DATA OR = 0.54; 95% CI = 0.39 – 0.73; p<0.001

CONCLUSIONS Rs9693444 proved association with increased breast cancer risk. Rs1436904 has a protective effect. Rs616488 and rs204247 has no impact on breast cancer risk in given population. Rs9693444 and rs1436904 are potential prognostic and predictive markers of breast cancer.

Thank you!