Women's College Research Institute, Toronto, ON, Canada.
Gynecol Oncol. 2010 Sep;118(3):299-302. doi: 10.1016/j.ygyno.2010.05.011. Epub 2010 Jun 8.
The purpose of this study is to determine the prevalence of BRCA1 and BRCA2 mutations among a large series of women with carcinoma of the fallopian tube.
Two series of women diagnosed with carcinoma of the fallopian tube were studied. Women identified from the Ontario Cancer Registry who were diagnosed with fallopian tube cancer between 1990 and 1998 and between 2002 and 2004. A second, hospital-based series was identified at Cedars Sinai Medical Centre, Los Angeles, California. These women were diagnosed between 1991 and 2007. Each subject was approached to provide her family history and ethnic background and to provide a blood sample for genetic testing for mutations in the BRCA1 and BRCA2 genes.
In total, 108 patients with fallopian tube cancer were recruited (70 from Ontario and 38 from Los Angeles). Thirty-three patients (30.6%) were found to have a deleterious mutation; 23 in BRCA1 (21.3%) and 10 in BRCA2 (9.3%). The prevalence of mutations was 55.6% in Jewish women and was 26.4% in non-Jewish women. A family history of ovarian or breast cancer was positive for 24 women (23.3%); of these, 14 had a mutation (58.3%). Fourteen (14.4%) of the patients had a previous history of breast cancer; of these, 10 (71.4%) had a mutation. 40.3% of the women who were diagnosed with fallopian tube cancer before age 60 had a mutation, compared with 17.4% of the women diagnosed at age 60 and above.
Approximately 30% of women with fallopian tube cancer have a mutation in BRCA1 or BRCA2. The highest frequencies of BRCA mutations were seen in women with fallopian tube cancer diagnosed under age 60, in Jewish women, in women with a family history of breast or ovarian cancer, and in women with a personal history of breast cancer. All patients diagnosed with invasive fallopian tube cancer should be considered candidates for genetic testing.
本研究旨在确定大量输卵管癌患者中 BRCA1 和 BRCA2 突变的流行率。
研究了两组被诊断为输卵管癌的女性。一组是从安大略癌症登记处（Ontario Cancer Registry）中识别出的，她们于 1990 年至 1998 年和 2002 年至 2004 年期间被诊断为输卵管癌；另一组是在加利福尼亚州洛杉矶雪松西奈医疗中心（Cedars Sinai Medical Centre）确定的基于医院的系列，这些女性于 1991 年至 2007 年期间被诊断为输卵管癌。每位患者都被邀请提供她的家族史和种族背景，并提供血液样本进行 BRCA1 和 BRCA2 基因突变的遗传检测。
共招募了 108 名输卵管癌患者（70 名来自安大略省，38 名来自洛杉矶）。33 名患者（30.6%）发现存在有害突变；23 名在 BRCA1（21.3%），10 名在 BRCA2（9.3%）。犹太裔女性的突变率为 55.6%，非犹太裔女性为 26.4%。24 名女性有卵巢癌或乳腺癌家族史（23.3%），其中 14 名有突变（58.3%）。14 名（14.4%）患者有乳腺癌既往史，其中 10 名（71.4%）有突变。在 60 岁以下被诊断为输卵管癌的女性中，有 40.3%有突变，而在 60 岁及以上被诊断为输卵管癌的女性中，这一比例为 17.4%。
大约 30%的输卵管癌患者存在 BRCA1 或 BRCA2 突变。BRCA 突变的最高频率见于 60 岁以下被诊断为输卵管癌的女性、犹太裔女性、有乳腺癌或卵巢癌家族史的女性以及有乳腺癌个人史的女性。所有被诊断为侵袭性输卵管癌的患者都应被视为遗传检测的候选者。
