Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

Cancer Discovery

Volumn 3, Issue 4, 2013, Pages 399-405

  Domchek, Susan M ^a,b   Tang, Jiangbo ^b   Stopfer, Jill ^a   Lilli, Dana R ^a,b   Hamel, Nancy ^e,f   Tischkowitz, Marc ^e,f,g   Monteiro, Alvaro N A ⁱ   Messick, Troy E ^c   Powers, Jacquelyn ^b   Yonker, Alexandria ^j   Couch, Fergus J ^k   Goldgar, David E ^l   Rosemarie Davidson, H ^h   Nathanson, Katherine L ^a,b   Foulkes, William D ^d,e,f   Greenberg, Roger A ^a,b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c Vironika   (United States)

^d MCGILL UNIVERSITY   (Canada)

^e MCGILL UNIVERSITY   (Canada)

^f MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h Ferguson Smith Centre for Clinical Genetics   (United Kingdom)

ⁱ H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^j Bryan Hemming Cancer Care Center   (United States)

^k MAYO CLINIC   (United States)

^l UNIVERSITY OF UTAH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CARBOPLATIN; PACLITAXEL;

ADULT; ANEMIA; ARTICLE; BLOOD TRANSFUSION REACTION; BREAST CANCER; BREAST TUMOR; CLINICAL ARTICLE; DEATH; DIARRHEA; DNA DAMAGE; DNA EXTRACTION; DRUG WITHDRAWAL; ERYTHROCYTE TRANSFUSION; FEMALE; FEVER; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; LYMPHOBLAST; MUCOSA INFLAMMATION; NAUSEA; NEUTROPENIA; OVARY CANCER; OVARY CARCINOMA; OVARY TUMOR; POLYMERASE CHAIN REACTION; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; TOXICITY;

ADULT; ALLELES; CARCINOMA, PAPILLARY; FEMALE; GENES, BRCA1; HUMANS; MUTATION; OVARIAN NEOPLASMS;

EID: 84876424557     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-12-0421     Document Type: Article

References (28)

1. King MC, Marks JH, Mandell JB. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302: 643-6.
2. Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science 2002; 297: 606-9.
3. Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, et al. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet 2007; 39: 159-61.
4. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet 2007; 39: 162-4.
5. Patel KJ. Fanconi anemia and breast cancer susceptibility. Nat Genet 2007; 39: 142-3.
6. Litman R, Peng M, Jin Z, Zhang F, Zhang J, Powell S, e t al. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell 2005; 8: 255-65.
7. Levitus M, Waisfisz Q, Godthelp BC, Vries Y, Hussain S, Wiegant WW, et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet 2005; 37: 934-5.
8. Evers B, Jonkers J. Mouse models of BRCA1 and BRCA2 defi ciency: past lessons, current understanding and future prospects. Oncogene 2006; 25: 5885-97.
9. Shakya R, Reid LJ, Reczek CR, Cole F, Egli D, Lin CS, et al. BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity. Science 2011; 334: 525-8.
10. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005; 434: 917-21.
11. Shanley S, McReynolds K, Ardern-Jones A, Ahern R, Fernando I, Yarnold J, et al. Acute chemotherapy-related toxicity is not increased in BRCA1 and BRCA2 mutation carriers treated for breast cancer in the United Kingdom. Clin Cancer Res 2006; 12: 7033-8.
12. Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009; 361: 123-34.
13. Thompson D, Easton DF, Goldgar DE. A full-likelihood method for the evaluation of causality of sequence variants from family data. Am J Hum Genet 2003; 73: 652-5.
14. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. 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. Am J Hum Genet 2003; 72: 1117-30.
15. Shanbhag NM, Rafalska-Metcalf IU, Balane-Bolivar C, Janicki SM, Greenberg RA. ATM-dependent chromatin changes silence transcription in cis to DNA double-strand breaks. Cell 2010; 141: 970-81.
16. Boyd M, Harris F, McFarlane R, Davidson HR, Black DM. A human BRCA1 gene knockout. Nature 1995; 375: 541-2.
17. Liede A, Cohen B, Black DM, Davidson RH, Renwick A, Hoodfar E, et al. Evidence of a founder BRCA1 mutation in Scotland. Br J Cancer 2000; 82: 705-11.
18. Kuschel B, Gayther SA, Easton DF, Ponder BA, Pharoah PD. Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing. Genes Chrom Cancer 2001; 31: 96-8.
19. Stratton JF, Thompson D, Bobrow L, Dalal N, Gore M, Bishop DT, et al. The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. Am J Hum Genet 1999; 65: 1725-32.
20. Silver DP, Livingston DM. Mechanisms of BRCA1 tumor suppression. Cancer Discov 2012; 2: 679-84.
21. Huber LJ, Yang TW, Sarkisian CJ, Master SR, Deng CX, Chodosh LA. Impaired DNA damage response in cells expressing an exon 11-deleted murine Brca1 variant that localizes to nuclear foci. Mol Cell Biol 2001; 21: 4005-15.
22. Ludwig T, Fisher P, Ganesan S, Efstratiadis A. Tumorigenesis in mice carrying a truncating Brca1 mutation. Gen Dev 2001; 15: 1188-93.
23. Xu X, Qiao W, Linke SP, Cao L, Li WM, Furth PA, et al. Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis. Nat Genet 2001; 28: 266-71.
24. Thakur S, Zhang HB, Peng Y, Le H, Carroll B, Ward T, e t al. Localization of BRCA1 and a splice variant identifi es the nuclear localization signal. Mol Cell Biol 1997; 17: 444-52.
25. Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, et al. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res 2010; 70: 4880-90.
26. Rowling PJ, Cook R, Itzhaki LS. Toward classifi cation of BRCA1 missense variants using a biophysical approach. J Biol Chem 2010; 285: 20080-7.
27. Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE. Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol 2008; 26: 5393-400.
28. Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, et al. Application of embryonic lethal or other obvious phenotypes to characterize the clinical signifi cance of genetic variants found in trans with known deleterious mutations. Cancer Res 2005; 65: 10096-103.