BRCA mutation in ovarian cancer: testing, implications and treatment considerations

被引：96

作者：

Neff, Robert T. ^{[2
]}

Senter, Leigha ^{[3
]}

Salani, Ritu ^{[1
]}

机构：

[1] Ohio State Univ, Wexner Med Ctr, James Comprehens Canc Ctr, 320 West 10th Ave,M210 Starling Loving Hall, Columbus, OH 43210 USA

[2] Ohio State Univ, Dept Obstet & Gynecol, Wexner Med Ctr, Div Gynecol Oncol, Columbus, OH 43210 USA

[3] Ohio State Univ, Wexner Med Ctr, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA

来源：

THERAPEUTIC ADVANCES IN MEDICAL ONCOLOGY | 2017年 / 9卷 / 08期

关键词：

BRCA; mutations; ovarian cancer; PARP inhibitor; REDUCING SALPINGO-OOPHORECTOMY; OLAPARIB MAINTENANCE THERAPY; BREAST-CANCER; EPITHELIAL OVARIAN; ORAL-CONTRACEPTIVES; POLY(ADP-RIBOSE) POLYMERASE; FALLOPIAN-TUBE; OPEN-LABEL; INTRAPERITONEAL CISPLATIN; CYTOREDUCTIVE SURGERY;

D O I：

10.1177/1758834017714993

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Ovarian cancer is a heterogeneous disease that encompasses a number of different cellular subtypes, the most common of which is high-grade serous ovarian cancer (HGSOC). Still today, ovarian cancer is primarily treated with chemotherapy and surgery. Recent advances in the hereditary understanding of this disease have shown a significant role for the BRCA gene. While only a minority of patients with HGSOC will have a germline BRCA mutation, many others may have tumor genetic aberrations within BRCA or other homologous recombination proteins. Genetic screening for these BRCA mutations has allowed improved preventative measures and therapeutic development. This review focuses on the understanding of BRCA mutations and their relationship with ovarian cancer development, as well as future therapeutic targets.

引用

页码：519 / 531

页数：13

共 84 条

[1] BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation-Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group [J].

Alsop, Kathryn ;

Fereday, Sian ;

Meldrum, Cliff ;

deFazio, Anna ;

Emmanuel, Catherine ;

George, Joshy ;

Dobrovic, Alexander ;

Birrer, Michael J. ;

Webb, Penelope M. ;

Stewart, Colin ;

Friedlander, Michael ;

Fox, Stephen ;

Bowtell, David ;

Mitchell, Gillian .

JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (21) :2654-2663

[2]

[Anonymous], CLIN CANC RES

[3]

[Anonymous], SOC GYN ONC ANN M WO

[4]

[Anonymous], J NATL CANC I

[5] Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies [J].

Antoniou, A ;

Pharoah, PDP ;

Narod, S ;

Risch, HA ;

Eyfjord, JE ;

Hopper, JL ;

Loman, N ;

Olsson, H ;

Johannsson, O ;

Borg, Å ;

Pasini, B ;

Radice, P ;

Manoukian, S ;

Eccles, DM ;

Tang, N ;

Olah, E ;

Anton-Culver, H ;

Warner, E ;

Lubinski, J ;

Gronwald, J ;

Gorski, B ;

Tulinius, H ;

Thorlacius, S ;

Eerola, H ;

Nevanlinna, H ;

Syrjäkoski, K ;

Kallioniemi, OP ;

Thompson, D ;

Evans, C ;

Peto, J ;

Lalloo, F ;

Evans, DG ;

Easton, DF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1117-1130

[6] Intraperitoneal cisplatin and paclitaxel in ovarian cancer [J].

Armstrong, DK ;

Bundy, B ;

Wenzel, L ;

Huang, HQ ;

Baergen, R ;

Lele, S ;

Copeland, LJ ;

Walker, JL ;

Burger, RA .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (01) :34-43

[7] Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial [J].

Audeh, M. William ;

Carmichael, James ;

Penson, Richard T. ;

Friedlander, Michael ;

Powell, Bethan ;

Bell-McGuinn, Katherine M. ;

Scott, Clare ;

Weitzel, Jeffrey N. ;

Oaknin, Ana ;

Loman, Niklas ;

Lu, Karen ;

Schmutzler, Rita K. ;

Matulonis, Ursula ;

Wickens, Mark ;

Tutt, Andrew .

LANCET, 2010, 376 (9737) :245-251

[8] Integrated genomic analyses of ovarian carcinoma [J].

Bell, D. ;

Berchuck, A. ;

Birrer, M. ;

Chien, J. ;

Cramer, D. W. ;

Dao, F. ;

Dhir, R. ;

DiSaia, P. ;

Gabra, H. ;

Glenn, P. ;

Godwin, A. K. ;

Gross, J. ;

Hartmann, L. ;

Huang, M. ;

Huntsman, D. G. ;

Iacocca, M. ;

Imielinski, M. ;

Kalloger, S. ;

Karlan, B. Y. ;

Levine, D. A. ;

Mills, G. B. ;

Morrison, C. ;

Mutch, D. ;

Olvera, N. ;

Orsulic, S. ;

Park, K. ;

Petrelli, N. ;

Rabeno, B. ;

Rader, J. S. ;

Sikic, B. I. ;

Smith-McCune, K. ;

Sood, A. K. ;

Bowtell, D. ;

Penny, R. ;

Testa, J. R. ;

Chang, K. ;

Dinh, H. H. ;

Drummond, J. A. ;

Fowler, G. ;

Gunaratne, P. ;

Hawes, A. C. ;

Kovar, C. L. ;

Lewis, L. R. ;

Morgan, M. B. ;

Newsham, I. F. ;

Santibanez, J. ;

Reid, J. G. ;

Trevino, L. R. ;

Wu, Y. -Q. ;

Wang, M. .

NATURE, 2011, 474 (7353) :609-615

[9] NSGC Practice Guideline: Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer [J].

Berliner, Janice L. ;

Fay, Angela Musial ;

Cummings, Shelly A. ;

Burnett, Brittany ;

Tillmanns, Todd .

JOURNAL OF GENETIC COUNSELING, 2013, 22 (02) :155-163

[10] Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer [J].

Bolton, Kelly L. ;

Chenevix-Trench, Georgia ;

Goh, Cindy ;

Sadetzki, Siegal ;

Ramus, Susan J. ;

Karlan, Beth Y. ;

Lambrechts, Diether ;

Despierre, Evelyn ;

Barrowdale, Daniel ;

McGuffog, Lesley ;

Healey, Sue ;

Easton, Douglas F. ;

Sinilnikova, Olga ;

Benitez, Javier ;

Garcia, Maria J. ;

Neuhausen, Susan ;

Gail, Mitchell H. ;

Hartge, Patricia ;

Peock, Susan ;

Frost, Debra ;

Evans, Gareth ;

Eeles, Rosalind ;

Godwin, Andrew K. ;

Daly, Mary B. ;

Kwong, Ava ;

Ma, Edmond S. K. ;

Lazaro, Conxi ;

Blanco, Ignacio ;

Montagna, Marco ;

D'Andrea, Emma ;

Nicoletto, Maria Ornella ;

Johnatty, Sharon E. ;

Krueger, Susanne ;

Jensen, Allan ;

Hogdall, Estrid ;

Goode, Ellen L. ;

Fridley, Brooke L. ;

Loud, Jennifer T. ;

Greene, Mark H. ;

Mai, Phuong L. ;

Chetrit, Angela ;

Lubin, Flora ;

Hirsh-Yechezkel, Galit ;

Glendon, Gord ;

Andrulis, Irene L. ;

Toland, Amanda E. ;

Senter, Leigha ;

Gore, Martin E. ;

Gourley, Charlie ;

Michie, Caroline O. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2012, 307 (04) :382-390

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