Heritability of Cellular Radiosensitivity: A Marker of Low-Penetrance Predisposition Genes in Breast Cancer? S.A. Roberts, A.R. Spreadborough, B. Bulman,

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Heritability of Cellular Radiosensitivity: A Marker of Low-Penetrance Predisposition Genes in Breast Cancer? S.A. Roberts, A.R. Spreadborough, B. Bulman, J.B.P. Barber, D.G.R. Evans, D. Scott The American Journal of Human Genetics Volume 65, Issue 3, Pages 784-794 (September 1999) DOI: 10.1086/302544 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Yields of radiation-induced chromosomal aberrations in lymphocytes exposed to 0.5-Gy x-rays in the G2 phase of the cell cycle. Top, Normal healthy donors. Bottom, Patients with breast cancer. The vertical dashed line indicates the cutoff point between a normal and a sensitive response. Data are from Scott et al. (1999). The American Journal of Human Genetics 1999 65, 784-794DOI: (10.1086/302544) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Yields of radiation-induced chromosomal aberrations in lymphocytes exposed to 0.5-Gy x-rays in the G2 phase of the cell cycle. Top, Healthy controls tested in parallel with samples from the families. The sensitive individual (to the right of the vertical dashed line) was tested twice and gave values of 120 aberrations/cells and 126 aberrations/100 cells, respectively. Middle, Patients with breast cancer, selected as being sensitive in the assay when tested before radiotherapy. Bottom, First-degree relatives of the patients with breast cancer who are shown in the middle panel. The American Journal of Human Genetics 1999 65, 784-794DOI: (10.1086/302544) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Relative-density histogram of the distribution of the mean G2 values of the 78 family members in the study (excluding index cases). The line indicates the fitted density functions with three log-normal peaks of equal width. The American Journal of Human Genetics 1999 65, 784-794DOI: (10.1086/302544) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Pedigrees of the 20 participating families. Index patients with breast cancer are represented by blackened circles. Numbers within the symbols are scores in the assay; results of repeat tests are given as two or three numbers within a symbol. For index cases for which there are two or three numbers, the upper value is for preradiotherapy testing, and the lower value(s) is(are) posttherapy. Sensitive responses are in boldface; normal responses in italics. In order to anonymize the pedigrees, we have not included ages of family members, regardless of whether they are alive or whether the family has cancers other than that in the index case. The American Journal of Human Genetics 1999 65, 784-794DOI: (10.1086/302544) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 5 Pedigrees of families 1, 2, and 8, showing putative genotypes based on the single-gene (in the case of families 1 and 2) or two-gene (in the case of family 8) models. “n” and “s” denote alleles that confer a normal or a sensitive response in the assay, respectively; where two putative genes are segregating, the genotypes of the second gene are italicized; where the symbols are in parentheses, the genotypes have been inferred. Other symbols are as in figure 4. The American Journal of Human Genetics 1999 65, 784-794DOI: (10.1086/302544) Copyright © 1999 The American Society of Human Genetics Terms and Conditions