Modification of Ovarian Cancer Risk by BRCA1/2-interacting Genes in a Multicenter Cohort of BRCA1/2 Mutation Carriers

被引：27

作者：

Rebbeck, Timothy R. ^{[1
,2
]}

Mitra, Nandita ^{[2
]}

Domchek, Susan M. ^{[3
]}

Wan, Fei ^{[2
]}

Chuai, Shannon ^{[2
]}

Friebel, Tara M. ^{[2
]}

Panossian, Saarene ^{[2
]}

Spurdle, Amanda ^{[5
]}

Chenevix-Trench, Georgia ^{[5
]}

Singer, Christian F. ^{[6
]}

Pfeiler, Georg ^{[6
]}

Neuhausen, Susan L. ^{[7
]}

Lynch, Henry T. ^{[8
,9
]}

Garber, Judy E. ^{[10
,11
]}

Weitzel, Jeffrey N. ^{[13
]}

Isaacs, Claudine ^{[14
]}

Couch, Fergus ^{[15
]}

Narod, Steven A. ^{[16
]}

Rubinstein, Wendy S. ^{[17
]}

Tomlinson, Gail E. ^{[18
,19
,21
]}

Ganz, Patricia A. ^{[22
]}

Olopade, Olufunmilayo I. ^{[23
]}

Tung, Nadine ^{[12
]}

Blum, Joanne L. ^{[20
]}

Greenberg, Roger ^{[3
]}

Nathanson, Katherine L. ^{[3
]}

Daly, Mary B. ^{[4
]}

机构：

[1] Univ Penn, Sch Med, Dept Biostat & Epidemiol, Abramson Canc Ctr, Philadelphia, PA 19104 USA

[2] Univ Penn, Sch Med, Ctr Clin Epidemiol & Biostat, Philadelphia, PA 19104 USA

[3] Univ Penn, Sch Med, Dept Med, Philadelphia, PA 19104 USA

[4] Fox Chase Canc Ctr, Div Populat Sci, Philadelphia, PA 19111 USA

[5] Queensland Inst Med Res, Brisbane, Qld 4006, Australia

[6] Med Univ Vienna, Dept Obstet & Gynaecol, Vienna, Austria

[7] Univ Calif Irvine, Dept Med, Div Epidemiol, Irvine, CA 92717 USA

[8] Creighton Univ, Dept Med, Omaha, NE 68178 USA

[9] Creighton Univ, Dept Prevent Med & Publ Hlth, Omaha, NE 68178 USA

[10] Harvard Univ, Sch Med, Dept Med, Boston, MA USA

[11] Dana Farber Canc Inst, Boston, MA 02115 USA

[12] Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA

[13] City Hope Comprehens Canc Ctr, Duarte, CA USA

[14] Georgetown Univ, Lombardi Canc Ctr, Washington, DC USA

[15] Mayo Clin, Coll Med, Rochester, MN USA

[16] Womens Coll Hosp, Toronto, ON M5S 1B2, Canada

[17] NorthShore Univ HealthSyst, Evanston, IL USA

[18] Univ Texas SW Med Ctr Dallas, Dept Internal Med, Dallas, TX 75390 USA

[19] Univ Texas SW Med Ctr Dallas, Harold C Simmons Comprehens Canc Ctr, Dallas, TX 75390 USA

[20] Baylor Charles A Sammons Canc Ctr, Dallas, TX USA

[21] Univ Texas Hlth Sci Ctr San Antonio, Dept Pediat, San Antonio, TX 78229 USA

[22] Univ Calif Los Angeles, Jonsson Comprehens Canc Ctr, Los Angeles, CA 90024 USA

[23] Univ Chicago, Chicago, IL 60637 USA

来源：

CANCER RESEARCH | 2009年 / 69卷 / 14期

基金：

英国医学研究理事会;

关键词：

SINGLE-NUCLEOTIDE POLYMORPHISM; MODIFIES BREAST-CANCER; DNA-DAMAGE RESPONSE; UNKNOWN CLINICAL-SIGNIFICANCE; NBS1; GENE; HAPLOTYPE FREQUENCIES; SEQUENCE VARIANTS; 657DEL5; MUTATION; FANCONI-ANEMIA; REPAIR;

D O I：

10.1158/0008-5472.CAN-09-0625

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Inherited BRCA1/2 mutations confer elevated ovarian cancer risk. Knowledge of factors that can improve ovarian cancer risk assessment in BRCA1/2 mutation carriers is important because no effective early detection for ovarian cancers exists. A cohort of 1,575 BRCA1 and 856 BRCA2 mutation carriers was used to evaluate haplotypes at ATM, BARD1, BRIP1, CTIP, MRE11, NBS1, RAD50, RAD51, and TOPBP1 in ovarian cancer risk. In BRCA1 carriers, no associations were observed with ATM, BARD1, CTIP, RAD50, RAD51, or TOPBP1. At BRIP1, an association was observed for one haplotype with a multiple testing corrected P (P(corr)) = 0.012, although no individual haplotype was significant. At MRE11, statistically significant associations were observed for one haplotype (P(corr) = 0.007). At NBS1, we observed a P(corr) = 0.024 for haplotypes. In BRCA2 carriers, no associations were observed with CTIP, NBS1, RAD50, or TOPBP1. Rare haplotypes at ATM (P(corr) = 0.044) and BARD1 (P(corr) = 0.012) were associated with ovarian cancer risk. At BNP1, two common haplotypes were significantly associated with ovarian cancer risk (P(corr) = 0.011). At MRE11, we observed a significant haplotype association (P(corr) = 0.012). and at RAD51, one common haplotype was significantly associated with ovarian cancer risk (P(corr) = 0.026). Variants in genes that interact biologically with BRCA1 and/or BRCA2 may be associated with modified ovarian cancer risk in women who carry BRCA1/2 mutations. [Cancer Res 2009;69(14):5801-10]

引用

页码：5801 / 5810

页数：10

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