Age-And tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC Carriers

Journal of Clinical Oncology

Volumn 34, Issue 23, 2016, Pages 2750-2760

  Schmidt, Marjanka K ^a   Hogervorst, Frans ^a   Van Hien, Richard ^a   Cornelissen, Sten ^a   Broeks, Annegien ^a   Adank, Muriel A ^b   Meijers, Hanne ^b   Waisfisz, Quinten ^b   Hollestelle, Antoinette ^c   Schutte, Mieke ^c   Van Den Ouweland, Ans ^d   Hooning, Maartje ^c   Andrulis, Irene L ^f,g   Anton Culver, Hoda ^h   Antonenkova, Natalia N ^l   Antoniou, Antonis C ^m   Arndt, Volker ^t   Bermisheva, Marina ^ae   Bogdanova, Natalia V ^v   Bolla, Manjeet K ^m   Brauch, Hiltrud ^t,w,x   Brenner, Hermann ^t   Brüning, Thomas ^y   Burwinkel, Barbara ^t,u   Chang Claude, Jenny ^t,z   Chenevix Trench, Georgia ^ag   Couch, Fergus J ^aj   Cox, Angela ⁿ   Cross, Simon S ⁿ   Czene, Kamila ^ak   Dunning, Alison M ^m   Fasching, Peter A ^i,aa   Figueroa, Jonine ^r,al   Fletcher, Olivia ^o   Flyger, Henrik ^am   Galle, Eva ^ao,ap   García Closas, Montserrat ^al   Giles, Graham G ^ah,ai   Haeberle, Lothar ^aa   Hall, Per ^ak   Hillemanns, Peter ^v   Hopper, John L ^j,k,ai   Jakubowska, Anna ^ar   John, Esther M ^a   Jones, Michael ^o   Khusnutdinova, Elza ^af   Knight, Julia A ^f,g   Kosma, Veli Matti ^as,at   Kristensen, Vessela ^av,aw   Lee, Andrew ^m   Lindblom, Annika ^ak   Lubinski, Jan ^ar   Mannermaa, Arto ^as,at   Margolin, Sara ^ak   Meindl, Alfons ^ab   Milne, Roger L ^ah,ai   Muranen, Taru A ^au   Newcomb, Polly A ^ax,ay   Offit, Kenneth ^az   Park Simon, Tjoung Won ^v   Peto, Julian ^p   Pharoah, Paul D P ^m   Robson, Mark ^az   Rudolph, Anja ^t   Sawyer, Elinor J ^q   Schmutzler, Rita K ^ac,ad   Seynaeve, Caroline ^c   Soens, Julie ^aq   Southey, Melissa C ^ai   Spurdle, Amanda B ^ag   Surowy, Harald ^t,u   Swerdlow, Anthony ^o   Tollenaar, Rob A E M ^e   Tomlinson, Ian ^s   Trentham Dietz, Amy ^ax   Vachon, Celine ^aj   Wang, Qin ^m   Whittemore, Alice S ^k   Ziogas, Argyrios ^h   Van Der Kolk, Lizet ^a   Nevanlinna, Heli ^au   Dörk, Thilo ^v   Bojesen, Stig ^am,an   Easton, Douglas F ^m   more..

^a NETHERLANDS CANCER INSTITUTE   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ERASMUS MC CANCER INSTITUTE   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f MOUNT SINAI HOSPITAL   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^k STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l Research Institute of Oncology and Medical Radiology of the Ministry of Health of the Byelorussian SSR   (Belarus)

^m UNIVERSITY OF CAMBRIDGE   (United Kingdom)

ⁿ UNIVERSITY OF SHEFFIELD   (United Kingdom)

^o INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^p LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^q KING'S COLLEGE LONDON   (United Kingdom)

^r UNIVERSITY OF EDINBURGH   (United Kingdom)

^s UNIVERSITY OF OXFORD   (United Kingdom)

^t GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^u UNIVERSITY OF HEIDELBERG   (Germany)

^v HANNOVER MEDICAL SCHOOL   (Germany)

^w DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

^x UNIVERSITY OF TÜBINGEN   (Germany)

^y RUHR UNIVERSITY BOCHUM   (Germany)

^z UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^aa UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^ab TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^ac UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^ad UNIVERSITY OF COLOGNE   (Germany)

^ae RUSSIAN ACADEMY OF SCIENCES   (Russian Federation)

^af Science and Education Center of Bashkir People History Ufa University of Science and Technology   (Russian Federation)

^ag QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^ah CANCER EPIDEMIOLOGY CENTRE   (Australia)

^ai UNIVERSITY OF MELBOURNE   (Australia)

^aj MAYO CLINIC   (United States)

^ak KAROLINSKA INSTITUTE   (Sweden)

^al NATIONAL CANCER INSTITUTE   (United States)

^am GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^an UNIVERSITY OF COPENHAGEN   (Denmark)

^ao UNIVERSITY OF LEUVEN   (Belgium)

^ap Vesalius Research Center   (Belgium)

^aq UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^ar POMERANIAN MEDICAL UNIVERSITY   (Poland)

^as UNIVERSITY OF EASTERN FINLAND   (Finland)

^at KUOPIO UNIVERSITY HOSPITAL   (Finland)

^au UNIVERSITY OF HELSINKI   (Finland)

^av OSLO UNIVERSITY HOSPITAL   (Norway)

^aw UNIVERSITY OF OSLO   (Norway)

^ax UNIVERSITY OF WISCONSIN MADISON   (United States)

^ay Fred Hutchinson Cancer Research Center   (United States)

^az MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHECKPOINT KINASE 2; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; PROGESTERONE RECEPTOR; CHEK2 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BREAST CANCER; BREAST CARCINOMA; CANCER RISK; CLINICAL GENETICS; CONTROLLED STUDY; ESTROGEN RECEPTOR POSITIVE BREAST CANCER; FAMILY HISTORY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; GROUPS BY AGE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; POPULATION RESEARCH; PRIORITY JOURNAL; PROGESTERONE RECEPTOR POSITIVE BREAST CANCER; UNITED KINGDOM; VERY ELDERLY; AGE; BREAST NEOPLASMS; CASE CONTROL STUDY; CHEMISTRY; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MIDDLE AGED; ODDS RATIO; RISK ASSESSMENT;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CHECKPOINT KINASE 2; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MIDDLE AGED; ODDS RATIO; RECEPTORS, ESTROGEN; RECEPTORS, PROGESTERONE; RISK ASSESSMENT; SEQUENCE DELETION;

EID: 84981713294     PISSN: 0732183X     EISSN: 15277755     Source Type: Journal    
DOI: 10.1200/JCO.2016.66.5844     Document Type: Article

References (28)

1. CHEK2 Breast Cancer Case-Control Consortium: CHEK21100delC and susceptibility to breast cancer: A collaborative analysis involving 10, 860 breast cancer cases and 9, 065 controls from 10 studies. Am J Hum Genet 74:1175-1182, 2004
2. Bartek J, Lukas J: Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell 3:421-429, 2003
3. Shieh SY, Ahn J, Tamai K, et al: The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damageinducible sites. Genes Dev 14:289-300, 2000
4. Craig AL, Hupp TR: The regulation of CHK2 in human cancer. Oncogene 23:8411-8418, 2004
5. Schutte M, Seal S, Barfoot R, et al: Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet 72:1023-1028, 2003
6. Cybulski C, Gó rski B, Huzarski T, et al: CHEK2-positive breast cancers in young Polish women. Clin Cancer Res 12:4832-4835, 2006
7. Weischer M, Bojesen SE, Ellervik C, et al: CHEK21100delC genotyping for clinical assessment of breast cancer risk: Meta-Analyses of 26, 000 patient cases and 27, 000 controls. J Clin Oncol 26:542-548, 2008
8. Zhang S, Phelan CM, Zhang P, et al: Frequency of the CHEK2 1100delC mutation among women with breast cancer: An international study. Cancer Res 68:2154-2157, 2008
9. Fletcher O, Johnson N, Dos Santos Silva I, et al: Family history, genetic testing, and clinical risk prediction: Pooled analysis of CHEK2 1100delC in 1, 828 bilateral breast cancers and 7, 030 controls. Cancer Epidemiol Biomarkers Prev 18:230-234, 2009
10. Meijers-Heijboer H, van denOuwelandA, Klijn J, et al: Low-penetrance susceptibility to breast cancer due to CHEK2()1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55-59, 2002
11. Schmidt MK, Tollenaar RAEM, de Kemp SR, et al: Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK21100delC germline mutation. J Clin Oncol 25:64-69, 2007
12. Weischer M, Nordestgaard BG, Pharoah P, et al: CHEK21100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. J Clin Oncol 30:4308-4316, 2012
13. de Bock GH, Schutte M, Krol-Warmerdam EM, et al: Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK21100-delC variant. J Med Genet 41:731-735, 2004
14. Nagel JH, Peeters JK, Smid M, et al: Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes. Breast Cancer Res Treat 132:439-448, 2012
15. Meyer A, Dö rk T, Sohn C, et al: Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. Radiother Oncol 82:349-353, 2007
16. Easton DF, Pharoah PD, Antoniou AC, et al: Gene-panel sequencing and the prediction of breastcancer risk. N Engl J Med 372:2243-2257, 2015
17. Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT, et al: Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet 355:2015-2020, 2000
18. Howell A, Anderson AS, Clarke RB, et al: Risk determination and prevention of breast cancer. Breast Cancer Res 16:446, 2014
19. Michailidou K, Hall P, Gonzalez-Neira A, et al: Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45:353-361, 361e1-361e2, 2013
20. Mavaddat N, Pharoah PD, Michailidou K, et al: Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst 107:djv036, 2015
21. Coebergh JW, van Veen EB, Vandenbroucke JP, et al: One-Time general consent for research on biological samples: Opt out system for patients is optimal and endorsed in many countries. BMJ 332: 665, 2006
22. Clayton D, Kaldor J: Empirical Bayes estimates of age-standardized relative risks for use in disease mapping. Biometrics 43:671-681, 1987
23. Lee AS, Ang P: CHEK21100delC screening of Asian womenwith a family history of breast cancer is unwarranted. J Clin Oncol 26:2419, author reply 2419-2420, 2008
24. National Institute for Health and Care Excellence: Familial breast cancer: Classification, care and managing breast cacer and related risks in people with a family history of breast cancer. https://www.nice.org.uk/guidance/cg164
25. Lee AJ, Cunningham AP, Kuchenbaecker KB, et al: BOADICEA breast cancer risk prediction model: Updates to cancer incidences, tumour pathology and web interface. Br J Cancer 110:535-545, 2014
26. Adank MA, Jonker MA, Kluijt I, et al: CHEK21100delC homozygosity is associated with a high breast cancer risk in women. J Med Genet 48:860-863, 2011
27. Adank MA, Verhoef S, Oldenburg RA, et al: Excess breast cancer risk in first degree relatives of CHEK2p1100delC positive familial breast cancer cases. Eur J Cancer 49:1993-1999, 2013
28. Adank M, Hes FJ, van Zelst-Stams WA, et al: CHEK2-mutatie diagnostiek in Nederlandse borstkankerfamilies. Uitbreiding van het genetisch diagnostisch pakket [in Dutch]. Ned Tijdschr Geneeskd 159:A8910, 2015.