Kets C M, Niermeijer M F, Massuger L F A G, Hoogerbrugge N
Afd. Antropogenetica, sectie Klinische Genetica, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2004 Aug 28;148(35):1709-11.
A family history of ovarian cancer without breast cancer can be a pitfall in interpreting the high breast cancer risks. A family with high breast and ovarian cancer risks due to a BRCA1 or BRCA2 mutation, can present itself with ovarian cancer only. In three women, 43, 50 and 61 years of age, there was a family history of ovarian cancer. In the youngest woman breast carcinoma was diagnosed and she was referred for genetic counseling and DNA mutation analysis. She was identified with a pathogenic mutation in BRCA1 and decided for regular breast examination and prophylactic adnectomy. The 50-year-old woman presented with ovarian cancer and was found to have a BRCA1 mutation. She received surgery and chemotherapy for her ovarian cancer and regular examination of the breasts. The third woman at risk could be reassured, since she did not carry the BRCA1 mutation that was found in her affected sister. Because the patients and their family members can benefit from regular surveillance and prophylactic surgery, it is of great importance to identify the high breast cancer risks as well as the high ovarian cancer risks in these families.
没有乳腺癌病史的卵巢癌家族史可能是解读高乳腺癌风险时的一个陷阱。因BRCA1或BRCA2突变而具有高乳腺癌和卵巢癌风险的家族，可能仅表现为卵巢癌。有三位女性，年龄分别为43岁、50岁和61岁，她们有卵巢癌家族史。最年轻的女性被诊断出患有乳腺癌，她被转介进行遗传咨询和DNA突变分析。她被鉴定出BRCA1基因存在致病突变，并决定定期进行乳房检查和预防性附件切除术。这位50岁的女性被诊断出患有卵巢癌，发现她有BRCA1突变。她接受了卵巢癌手术和化疗，并定期进行乳房检查。第三位有风险的女性可以放心，因为她没有携带在其患病姐姐身上发现的BRCA1突变。由于患者及其家庭成员可以从定期监测和预防性手术中受益，因此识别这些家族中的高乳腺癌风险和高卵巢癌风险非常重要。
