Fig. 1.

Identification of Abraxas mutation c.1082G>A (Arg361Gln) in breast cancer index cases and cancer families. (A) Schematic diagram of the Abraxas protein and the site of Arg361Gln. Chromatogram of c.1082G>A (Arg361Gln) is displayed directly below the bipartite NLS 358-Lys-Arg-Ser-Arg-361 and 368-Lys-Arg-Ser-Lys-371 shown in yellow. (B) Evolutionary conservation of Abraxas c.1082G and the encoded codon Arg³⁶¹. The conservation scoring was performed by PRALINE. The scoring scheme extends from 0 for the least conserved alignment position up to * for the most conserved alignment position. (C) Pedigrees of two Abraxas c.1082G>A mutation–positive breast cancer families where segregation analysis was possible (BR-0194 and 96-653). Black circles represent breast (Br) cancer cases; other cancer types [brain, colon (Co), endometrial (End), fibrosarcoma (Fsar), head, lip, lung, lymphoma (Ly), neuroblastoma (Nb), ovarian (Ov), pancreatic (Pan), prostate (Pro), sarcoma (Sar), skin, stomach (Sto); Ca, unknown] are marked with gray circles (females) or squares (males). Arrows point to index patients. A slashed symbol indicates a deceased individual. Sample identification codes are provided for all individuals where DNA specimens were available for mutation status analysis. Individuals are marked with a plus sign if mutation-positive. The age at diagnosis is indicated below the patients. The age at monitoring (or age at death), when known, is shown for the healthy individuals.