Rare Variants of ATM and Risk for Hodgkin’s Disease and Radiation-associated Breast Cancers

摘要: Purpose: In this study, we first sought to evaluate whetherindividuals heterozygous for ATM mutations may havean increased susceptibility radiation-induced breast cancer (BC) after treatment Hodgkin’s disease (HD). We next determine the frequency of variants in patients with lymphoma, regardless coexisting BC, compared healthy volunteers. Experimental Design: Full sequence analysis was performed on cDNA from peripheral blood lymphocytes 37 cases BC therapeutic radiation therapy HD and 27 comparison no treated during same time period. The analyzed total group 64 allele frequencies 128 ethnically matched controls geographical region. Results: No protein-truncating were observed or without BC. Missense more frequent cohort following ( P = 0.02). median development 18 years 16 those 0.04). Multiple variants, including one homozygous mutation, 9 cases. Conclusions: Heterozygous missense not associated radiation-associated risk HD. observation multiple germ-line a homozygote suggests that rare constitute cancer-susceptibility alleles subset