PPM1D Mutations in Circulating White Blood Cells and the Risk for Ovarian Cancer

被引：23

作者：

Akbari, Mohammad R. ^{[1
,2
]}

Lepage, Pierre ^{[4
]}

Rosen, Barry ^{[5
]}

McLaughlin, John ^{[2
,3
]}

Risch, Harvey ^{[7
]}

Minden, Mark ^{[6
]}

Narod, Steven A. ^{[1
,2
]}

机构：

[1] Univ Toronto, Womens Coll Hosp, Womens Coll Res Inst, Toronto, ON, Canada

[2] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada

[3] Univ Toronto, Samuel Lunenfeld Res Inst, Toronto, ON, Canada

[4] McGill Univ, Genome Quebec Innovat Ctr, Montreal, PQ, Canada

[5] Princess Margaret Hosp, Dept Gynecol Oncol, Toronto, ON M4X 1K9, Canada

[6] Princess Margaret Hosp, Dept Med Oncol, Toronto, ON M4X 1K9, Canada

[7] Yale Univ, Sch Med, Dept Epidemiol & Publ Hlth, Sch Publ Hlth, New Haven, CT 06510 USA

来源：

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE | 2014年 / 106卷 / 01期

关键词：

FALLOPIAN-TUBE; PHOSPHATASE; BRCA1; WIP1; AMPLIFICATION; P53;

D O I：

10.1093/jnci/djt323

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We compared the frequency of PPM1D mutation in the white blood cells from 1295 ovarian cancer case patients and 834 control subjects. We found a truncating mutation in 20 case patients vs 1 control subject (odds ratio [OR] = 13.07; 95% confidence interval [CI] = 1.75 to 97.55; P < .001). The 12-year mortality of the PPM1D-positive case patients was higher than that of the PPM1D-negative case patients (hazard ratio = 2.02; 95% CI = 1.21 to 3.39; P = .007). Three of the 20 PPM1D carrier case patients had a past history of breast cancer compared with 29 of 1129 noncarriers (OR = 6.69; 95% CI = 1.86 to 24.11; P = .007). The lifetime risks for breast or ovarian cancer among female first-degree relatives of PPM1D mutation carriers were not increased compared with that of case patients without mutations. These observations suggest PPM1D mutations in the mosaic state predispose women to breast and ovarian cancer in the absence of a family history of cancer.

引用

页数：4

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