Evans D G, Ribiero G, Warrell D, Donnai D
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester.
J Med Genet. 1992 Jun;29(6):416-8. doi: 10.1136/jmg.29.6.416.
A subject from a family with ovarian cancer who has developed bilateral medullary carcinoma of the breast at the age of 40 is presented. The family is consistent with dominant inheritance of ovarian cancer and 12 female family members at 12.5%, 25%, and 50% risk, including our case, have undergone bilateral prophylactic oophorectomy and been given hormone replacement therapy. Despite the risk of further primary tumours of the breast our patient chose to have treatment with wide excision and radiotherapy. The implications for screening, prophylaxis, and hormone replacement therapy for this family are discussed.
本文介绍了一名来自卵巢癌家族的患者,该患者在40岁时患上了双侧乳腺髓样癌。这个家族符合卵巢癌的显性遗传模式,包括我们的病例在内,有12名女性家族成员面临12.5%、25%和50%的风险,她们均接受了双侧预防性卵巢切除术并接受了激素替代治疗。尽管患者仍有患其他原发性乳腺癌的风险,但她选择了广泛切除和放射治疗。本文还讨论了该家族在筛查、预防和激素替代治疗方面的意义。