Incidence of endometrial cancer in BRCA mutation carriers

被引:0
作者
Kotsopoulos, Joanne [1 ,2 ]
Lubinski, Jan [3 ]
Huzarski, Tomasz [3 ,4 ]
Bychkovsky, Brittany L. [5 ,6 ]
Moller, Pal [7 ]
Kim, Raymond H. [8 ]
Tung, Nadine [9 ]
Eisen, Andrea [10 ]
Foulkes, William [11 ]
Singer, Christian F. [12 ]
Aeilts, Amber [13 ]
Neuhausen, Susan L. [14 ]
Bordeleau, Louise [15 ]
Karlan, Beth [16 ]
Fruscio, Robert [17 ]
Eng, Charis [18 ]
Olopade, Olufunmilayo [19 ]
Zakalik, Dana [20 ]
Couch, Fergus [21 ]
Cajal, Teresa Ramon y [22 ]
Sun, Ping [1 ]
Gronwald, Jacek [3 ]
Narod, Steven A. [1 ,2 ]
机构
[1] Womens Coll Hosp, Womens Coll Res Inst, Toronto, ON M5S 1B2, Canada
[2] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada
[3] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, Szczecin, Poland
[4] Dana Farber Canc Inst, Div Canc Genet & Prevent, Boston, MA USA
[5] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA USA
[6] Harvard Med Sch, Boston, MA USA
[7] Norwegian Radium Hosp, Inst Canc Res, Dept Tumour Biol, N-0379 Oslo, Norway
[8] Univ Toronto, Hosp Sick Children, Ontario Inst Canc Res, Princess Margaret Canc Ctr,Sinai Hlth Syst,Div Med, Toronto, ON, Canada
[9] Beth Israel Deaconess Med Ctr, Boston, MA USA
[10] Toronto Sunnybrook Reg Canc Ctr, Toronto, ON, Canada
[11] McGill Univ, Dept Oncol, McGill Program Canc Genet, Montreal, PQ, Canada
[12] Med Univ Vienna, Comprehens Canc Ctr, Dept Obstet & Gynecol, Vienna, Austria
[13] Ohio State Univ, Comprehens Canc Ctr, Div Human Genet, Med Ctr, Columbus, OH USA
[14] Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA
[15] McMaster Univ, Dept Oncol, Hamilton, ON, Canada
[16] Univ Calif Los Angeles, David Geffen Sch Med, Dept Obstet & Gynecol, Los Angeles, CA USA
[17] IRCCS Fdn San Gerardo Tintori, Clin Obstet & Gynecol, Monza, Italy
[18] Cleveland Clin, Genom Med Inst, Cleveland, OH USA
[19] Univ Chicago, Dept Med & Human Genet, Chicago, IL USA
[20] Beaumont Hosp, Canc Genet Program, Royal Oak, MI USA
[21] Mayo Clin, Div Expt Pathol & Lab Med, Dept Lab Med & Pathol, Rocheste, MN USA
[22] Hosp Santa Creu i Santa Pau, Familial Canc Clin, Med Oncol, Barcelona, Spain
关键词
BRCA; Hysterectomy; Endometrial cancer; Tamoxifen; Prospective; UTERINE SEROUS CARCINOMA; WOMEN; HYSTERECTOMY; RISK;
D O I
10.1016/j.ygyno.2024.07.687
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Objective. Whether or not women who harbor a germline pathogenic variant ('mutation') in theBRCA1orBRCA2genes are at elevated risk of developing endometrial cancer is yet to be determined. Methods. We conducted a prospective analysis of 4959BRCAmutation carriers with no prior history of cancer(except for breast or melanoma) and an intact uterus. Results. After a mean of 6.7 years of follow-up there were 38 incident cases of endometrial cancer diagnosed;30 amongBRCA1carriers and eight amongBRCA2carriers. The mean age at diagnosis was 58.4 years (range46.8-76.1). The majority were of the endometrioid subtype (n= 16), followed by mixed endometroid and se-rous (n= 4), serous (n= 3) or clear cell (n= 1) (missing = 13). The cumulative incidence from age 40 toage 70 was 3.4% forBRCA1carriers and was 1.6% forBRCA2mutation carriers. Prior tamoxifen use was associated with a significant two-fold increased risk (HR = 2.24; 95% CI 1.10-4.55). There was no significant association be- tween exogenous hormone use, oophorectomy, smoking or BMI at age 40 and risk (P P >= 0.32). Conclusions. Compared to the general population, we observed higher rates of endometrial cancer among young BRCA1 mutation carriers; however, lifetime risks were similar. Women with prior tamoxifen exposure were at a significantly increased risk. These findings were based. on a small number of incident cases and require confirmation with additional follow-up of our aging cohort. (c) 2024 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
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页码:148 / 155
页数:8
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