Febbraro Terri, Robison Katina, Wilbur Jennifer Scalia, Laprise Jessica, Bregar Amy, Lopes Vrishali, Legare Robert, Stuckey Ashley
Women and Infants, Warren Alpert Medical School of Brown University, Providence, RI, USA.
Women and Infants, Warren Alpert Medical School of Brown University, Providence, RI, USA; Program in Women's Oncology, USA.
Gynecol Oncol. 2015 Jul;138(1):109-14. doi: 10.1016/j.ygyno.2015.04.029. Epub 2015 Apr 28.
Genetic predisposition is responsible for 5-10% of breast cancer, 10% of ovarian cancer and 2-5% of uterine cancer. The study objective was to compare genetic counseling and testing referral rates among women with breast cancer that met NCCN referral guidelines to the referral rates among women with gynecologic cancers and determine predictors of referral.
Utilizing an institutional tumor registry database, patients from an academic women's oncology program were identified who met a subset of NCCN guidelines for genetic referral between 2004 and 2010. Patients diagnosed with ovarian cancer, breast cancer ≤50years of age, or uterine cancer <50years of age were included. A retrospective electronic chart review was conducted to evaluate for a genetic referral and uptake of genetic testing.
820 women were included (216 uterine, 314 breast, and 290 ovarian cancer). The overall genetic referral rate was 21.7%. 34% of eligible breast cancer patients were referred compared to 13.4% of uterine cancer and 14.5% of ovarian cancer patients (p<0.0001). Younger age, breast cancer diagnosis, family history and earlier stage were all significant referral predictors. The odds of being referred increased with the number of affected family members. 70.8% of referred patients, consulted with genetics. Among those who consulted with genetics, 95.2% underwent testing.
Although increasing, genetic counseling remains underutilized across cancer diagnosis. Women with breast cancer are more likely to be referred than women with gynecologic cancers. Younger age, earlier stage and positive family history appear to be predictive of referral for genetic evaluation.
遗传易感性在5% - 10%的乳腺癌、10%的卵巢癌和2% - 5%的子宫癌发病中起作用。本研究的目的是比较符合美国国立综合癌症网络(NCCN)转诊指南的乳腺癌女性患者与妇科癌症女性患者的遗传咨询和检测转诊率,并确定转诊的预测因素。
利用机构肿瘤登记数据库,确定了2004年至2010年间符合NCCN遗传转诊指南子集的学术性女性肿瘤项目患者。纳入诊断为卵巢癌、年龄≤50岁的乳腺癌或年龄<50岁的子宫癌患者。进行回顾性电子病历审查以评估遗传转诊和基因检测的接受情况。
共纳入820名女性(216例子宫癌、314例乳腺癌和290例卵巢癌)。总体遗传转诊率为21.7%。符合条件的乳腺癌患者中有34%被转诊,而子宫癌患者为13.4%,卵巢癌患者为14.5%(p<0.0001)。年龄较小、乳腺癌诊断、家族史和较早分期都是显著的转诊预测因素。被转诊的几率随着受影响家庭成员数量的增加而增加。70.8%的被转诊患者咨询了遗传学专家。在咨询遗传学专家的患者中,95.2%接受了检测。
尽管遗传咨询有所增加,但在各类癌症诊断中仍未得到充分利用。乳腺癌女性比妇科癌症女性更有可能被转诊。年龄较小、分期较早和家族史阳性似乎是遗传评估转诊的预测因素。