Abstract: Objective  To investigate the risk of cancer other than breast or ovarian in Chinese Han women with family breast cancer who carried a BRCA1 or BRCA2 mutation. Methods  Germline mutations in BRCA1/2 genes in the cohort of 465 Chinese Han patients with familial breast cancer were screened using a PCR-sequencing assay. The proportion of cancer other than breast or ovarian was compared in mutantion group and non mutation group. Results  Among the 465 familial breast cancer patients, 47 (10.1%) were BRCA1/2 mutation carriers and 418 (89.9%) were non-carriers. There was no significant difference in the total proportion of cancers other than breast or ovarian in the family between BRCA1/2 mutation carriers and non-carriers (27.7% vs 29.9%, χ²=0.10, P=0.75). But the tumor spectrum was different between the BRCA1/2 carriers and non-carriers. In the family of BRCA1/2 carriers, the most common cancers were gastric cancer, pancreatic cancer, and prostate cancer; while in the non-carriers, the most common cancers were lung cancer, gastric cancer, and esophageal cancer. The relative risk of gastric cancer, pancreatic cancer and prostate cancer was significantly higher in the families of BRCA1/2 mutation carriers than that of non-carriers (17% vs 7.7%, odd ratio: 2.47, 95%CI: 1.07 to 5.74, P=0.048). Conclusion  This study suggests that the relative risk of gastric cancer, pancreatic cancer and prostate cancer in BRCA1/2 carriers is moderate higher than in non-carriers in Chinese Han women.

Key words: Han nationality, Breast neoplasms, China, Genes, BRCA1, Genes, BRCA2, Mutation