Identification of ERCC6 mutation p.Ala62Thr in a breast cancer family. (A) The pedigree of the family analyzed where the patient, marked with an arrow has a sister who was also diagnosed of breast cancer. The sisters’ mother and grandmother died of breast cancer. Their father died of unspecified lung disease. (B) Sequence chromatographs showing the heterozygous state of the c.148G>A p.Ala62Thr mutation and its segregation in the family. The sequence of the reverese strand is shown.