A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer Pia Vahteristo, Jirina Bartkova, Hannaleena Eerola, Kirsi Syrjäkoski,

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A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer Pia Vahteristo, Jirina Bartkova, Hannaleena Eerola, Kirsi Syrjäkoski,

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A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer Pia Vahteristo, Jirina Bartkova, Hannaleena Eerola, Kirsi Syrjäkoski, Salla Ojala, Outi Kilpivaara, Anitta Tamminen, Juha Kononen, Kristiina Aittomäki, Päivi Heikkilä, Kaija Holli, Carl Blomqvist, Jiri Bartek, Olli-P. Kallioniemi, Heli Nevanlinna The American Journal of Human Genetics Volume 71, Issue 2, Pages 432-438 (August 2002) DOI: 10.1086/341943 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of two families with a CHEK2 1100delC germline variant. In family 178 (top), four patients with breast cancer share the mutation, but four unaffected women are also carriers. In family 277 (bottom), the mutation is found only in one patient with breast cancer and her unaffected sister. Prca = prostate cancer; Brca = breast cancer; + = positive for mutation; − = negative for mutation. Numbers followed by “y” represent age at diagnosis, except for two women in family 277, whose age is preceded by “d,” representing age at death. The American Journal of Human Genetics 2002 71, 432-438DOI: (10.1086/341943) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 Immunohistochemical detection of CHEK2 in human breast tissues and tumors on a tissue microarray. Examples include breast carcinomas with normal (panels A and H) or aberrantly reduced (panels B, C, D, E, F, G and I) CHEK2 levels, compared with normal breast tissue control (panel J). The samples shown in panels B, C, and D are from three different tumors with 1100delC, and corresponding detailed staining patterns are documented in panels E, F, and G, respectively. Panel I shows reduced CHEK2 immunostaining in a breast carcinoma wild type for exon 10. The incubation with the DCS-270 antibody and biotin-streptavidin-peroxidase detection was not followed by nuclear counterstaining (Bartkova et al. 2001; Lukas et al. 2001), to facilitate evaluation of the CHEK2 staining intensity in the nuclei of tumor cells, normal epithelial cells, and stromal cells. Note the reduced staining for CHEK2 in panels B, C, D, E, F, G, and I, compared with normal levels seen in panels A, H, and J. Magnification 30×, in panels A–D, and 120×, in panels E–J. The American Journal of Human Genetics 2002 71, 432-438DOI: (10.1086/341943) Copyright © 2002 The American Society of Human Genetics Terms and Conditions