Objective: To screen mutations of the tumor suppressor gene BRCA1 within three exons among Jordanian breast cancer females.

Methods: A total of 135 Jordanian breast cancer females were genetically analyzed by denaturing gradient electrophoresis (DGGE) for mutations detection in three BRCA1 exons (2, 11 and 20) between 2000-2002 in Al-Basheer Hospital, Amman, Jordan.

Results: Of the studied patients fifty had a family history of breast, twenty eight had a family history of cancer other than breast cancer, and fifty seven had no family history of any cancer. Five germline mutations were detected among breast cancer females with a family history of breast cancers (one in exon 2 and four mutations in exon 11). Another germline mutation (within exon 11) was detected among breast cancer females with family history of cancer other than breast cancer, and no mutation was detected among breast cancer females with no family history of any cancer or among normal control females.

Conclusion: Screening mutations within exon 2, exon 11 and exon 20 showed that most screened mutations were within BRCA1 exon 11 among breast cancer Jordanian families with a family history of breast and/ or breast-ovarian cancers group.