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01-12-2009

CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia

Authors: Eswary Thirthagiri, Leng San Cheong, Cheng Har Yip, Soo-Hwang Teo

Published in: Familial Cancer | Issue 4/2009

Abstract

A truncating mutation (1100delC) in the cell cycle checkpoint kinase-2 gene, CHEK2, has been identified as a risk factor for familial and sporadic breast cancer in some Northern and Western European populations. However, the prevalence of CHEK2*1100delC in breast cancer appears to be population dependent. We analysed the prevalence of CHEK2*1100delC in 668 breast cancer cases, of which 542 were invasive breast cancers, from a hospital-based cohort of breast cancer patients from Kuala Lumpur, Malaysia. The variant was not found in any patients in this cohort, suggesting that CHEK2*1100delC is rare in our population, and unlikely to contribute significantly to risk to breast cancer among the Malay, Chinese and Indian ethnic groups in Malaysia. This suggests that screening for this allele should not be routinely conducted in Malaysia.

Bartek J, Lukas J (2003) Chk1 and Chk2 kinases in checkpoint control and cancer. Cancer Cell 3:421–429CrossRefPubMed

Nevanlinna H, Bartek J (2006) The CHEK2 gene and inherited breast cancer susceptibility. Oncogene 25:5912–5919CrossRefPubMed

Walsh T, King MC (2007) Ten genes for inherited breast cancer. Cancer Cell 11:103–105CrossRefPubMed

Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, Roach KC, Mandell J, Lee MK, Ciernikova S, Foretova L, Soucek P, King MC (2006) Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295:1379–1388CrossRefPubMed

Cybulski C, Wokolorczyk D, Huzarski T, Byrski T, Gronwald J, Gorski B, Debniak T, Masojc B, Jakubowska A, van de Wetering T, Narod SA, Lubinski J (2007) A deletion in CHEK2 of 5, 395 bp predisposes to breast cancer in Poland. Breast Cancer Res Treat 102:119–122CrossRefPubMed

Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC (2005) Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet 14:555–563CrossRefPubMed

Bogdanova N, Enssen-Dubrowinskaja N, Feshchenko S, Lazjuk GI, Rogov YI, Dammann O, Bremer M, Karstens JH, Sohn C, Dork T (2005) Association of two mutations in the CHEK2 gene with breast cancer. Int J Cancer 116:263–266CrossRefPubMed

Kilpivaara O, Vahteristo P, Falck J, Syrjakoski K, Eerola H, Easton D, Bartkova J, Lukas J, Heikkila P, Aittomaki K, Holli K, Blomqvist C, Kallioniemi OP, Bartek J, Nevanlinna H (2004) CHEK2 variant I157T may be associated with increased breast cancer risk. Int J Cancer 111:543–547CrossRefPubMed

Cybulski C, Gorski B, Huzarski T, Masojc B, Mierzejewski M, Debniak T, Teodorczyk U, Byrski T, Gronwald J, Matyjasik J, Zlowocka E, Lenner M, Grabowska E, Nej K, Castaneda J, Medrek K, Szymanska A, Szymanska J, Kurzawski G, Suchy J, Oszurek O, Witek A, Narod SA, Lubinski J (2004) CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet 75:1131–1135CrossRefPubMed

10.

Schutte M, Seal S, Barfoot R, Meijers-Heijboer H, Wasielewski M, Evans DG, Eccles D, Meijers C, Lohman F, Klijn J, van den Ouweland A, Futreal PA, Nathanson KL, Weber BL, Easton DF, Stratton MR, Rahman N (2003) Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility. Am J Hum Genet 72:1023–1028CrossRefPubMed

11.

Dong X, Wang L, Taniguchi K, Wang X, Cunningham JM, McDonnell SK, Qian C, Marks AF, Slager SL, Peterson BJ, Smith DI, Cheville JC, Blute ML, Jacobsen SJ, Schaid DJ, Tindall DJ, Thibodeau SN, Liu W (2003) Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 72:270–280CrossRefPubMed

12.

Seppala EH, Ikonen T, Mononen N, Autio V, Rokman A, Matikainen MP, Tammela TL, Schleutker J (2003) CHEK2 variants associate with hereditary prostate cancer. Br J Cancer 89:1966–1970CrossRefPubMed

13.

Cybulski C, Wokolorczyk D, Huzarski T, Byrski T, Gronwald J, Gorski B, Debniak T, Masojc B, Jakubowska A, Gliniewicz B, Sikorski A, Stawicka M, Godlewski D, Kwias Z, Antczak A, Krajka K, Lauer W, Sosnowski M, Sikorska-Radek P, Bar K, Klijer R, Zdrojowy R, Malkiewicz B, Borkowski A, Borkowski T, Szwiec M, Narod SA, Lubinski J (2006) A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. J Med Genet 43:863–866CrossRefPubMed

14.

Cybulski C, Wokolorczyk D, Kladny J, Kurzawski G, Suchy J, Grabowska E, Gronwald J, Huzarski T, Byrski T, Gorski B, T DEB, Narod SA, Lubinski J (2007) Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? Eur J Hum Genet 15:237–241CrossRefPubMed

15.

Kilpivaara O, Alhopuro P, Vahteristo P, Aaltonen LA, Nevanlinna H (2006) CHEK2 I157T associates with familial and sporadic colorectal cancer. J Med Genet 43:e34CrossRefPubMed

16.

Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE, Haber DA (1999) Heterozygous germline hCHK2 mutations in Li-Fraumeni syndrome. Science 286:2528–2531CrossRefPubMed

17.

Meijers-Heijboer H, van den Ouweland A, Klijn J, Wasielewski M, de Snoo A, Oldenburg R, Hollestelle A, Houben M, Crepin E, van Veghel-Plandsoen M, Elstrodt F, van Duijn C, Bartels C, Meijers C, Schutte M, McGuffog L, Thompson D, Easton D, Sodha N, Seal S, Barfoot R, Mangion J, Chang-Claude J, Eccles D, Eeles R, Evans DG, Houlston R, Murday V, Narod S, Peretz T, Peto J, Phelan C, Zhang HX, Szabo C, Devilee P, Goldgar D, Futreal PA, Nathanson KL, Weber B, Rahman N, Stratton MR (2002) Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nat Genet 31:55–59CrossRefPubMed

18.

The CHEK2 Breast Cancer Case–Control Consortium (2004) CHEK2*1100delC 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 74:1175–1182CrossRef

19.

Schmidt MK, Tollenaar RA, de Kemp SR, Broeks A, Cornelisse CJ, Smit VT, Peterse JL, van Leeuwen FE, Van’t Veer LJ (2007) Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. J Clin Oncol 25:64–69CrossRefPubMed

20.

de Bock GH, Schutte M, Krol-Warmerdam EM, Seynaeve C, Blom J, Brekelmans CT, Meijers-Heijboer H, van Asperen CJ, Cornelisse CJ, Devilee P, Tollenaar RA, Klijn JG (2004) Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant. J Med Genet 41:731–735CrossRefPubMed

21.

Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M (2003) The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 72:1308–1314CrossRefPubMed

22.

Vahteristo P, Bartkova J, Eerola H, Syrjakoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomaki K, Heikkila P, Holli K, Blomqvist C, Bartek J, Kallioniemi OP, Nevanlinna HA (2002) CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71:432–438CrossRefPubMed

23.

Kwiatkowska E, Skasko E, Niwinska A, Wojciechowska-Lacka A, Rachtan J, Molong L, Nowakowska D, Konopka B, Janiec-Jankowska A, Paszko Z, Steffen J (2006) Low frequency of the CHEK2*1100delC mutation among breast cancer probands from three regions of Poland. Neoplasma 53:305–308PubMed

24.

Rashid MU, Jakubowska A, Justenhoven C, Harth V, Pesch B, Baisch C, Pierl CB, Bruning T, Ko Y, Benner A, Wichmann HE, Brauch H, Hamann U (2005) German populations with infrequent CHEK2*1100delC and minor associations with early-onset and familial breast cancer. Eur J Cancer 41:2896–2903CrossRefPubMed

25.

Offit K, Pierce H, Kirchhoff T, Kolachana P, Rapaport B, Gregersen P, Johnson S, Yossepowitch O, Huang H, Satagopan J, Robson M, Scheuer L, Nafa K, Ellis N (2003) Frequency of CHEK2*1100delC in New York breast cancer cases and controls. BMC Med Genet 4:1–4CrossRefPubMed

26.

Caligo MA, Agata S, Aceto G, Crucianelli R, Manoukian S, Peissel B, Scaini MC, Sensi E, Veschi S, Cama A, Radice P, Viel A, D’Andrea E, Montagna M (2004) The CHEK2 c. 1100delC mutation plays an irrelevant role in breast cancer predisposition in Italy. Hum Mutat 24:100–101CrossRefPubMed

27.

Osorio A, Rodriguez-Lopez R, Diez O, de la Hoya M, Ignacio Martinez J, Vega A, Esteban-Cardenosa E, Alonso C, Caldes T, Benitez J (2004) The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. Int J Cancer 108:54–56CrossRefPubMed

28.

Zhang S, Phelan CM, Zhang P, Rousseau F, Ghadirian P, Robidoux A, Foulkes W, Hamel N, McCready D, Trudeau M, Lynch H, Horsman D, De Matsuda ML, Aziz Z, Gomes M, Costa MM, Liede A, Poll A, Sun P, Narod SA (2008) Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. Cancer Res 68:2154–2157CrossRefPubMed

29.

Choi DH, Cho DY, Lee MH, Park HS, Ahn SH, Son BH, Haffty BG (2008) The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation. Breast Cancer Res Treat 112:569–573CrossRefPubMed

30.

Song CG, Hu Z, Yuan WT, Di GH, Shen ZZ, Huang W, Shao ZM (2006) CHEK2 c. 1100delC may not contribute to genetic background of hereditary breast cancer from Shanghai of China. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23:443–445PubMed

31.

Bell DW, Kim SH, Godwin AK, Schiripo TA, Harris PL, Haserlat SM, Wahrer DC, Haiman CA, Daly MB, Niendorf KB, Smith MR, Sgroi DC, Garber JE, Olopade OI, Le Marchand L, Henderson BE, Altshuler D, Haber DA, Freedman ML (2007) Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts. Int J Cancer 121:2661–2667CrossRefPubMed

32.

Lee AS, Ang P (2008) CHEK2*1100delC screening of Asian women with a family history of breast cancer is unwarranted. J Clin Oncol 26:2419 (author reply 2419–20)CrossRefPubMed

33.

Rajkumar T, Soumittra N, Nancy NK, Swaminathan R, Sridevi V, Shanta V (2003) BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev 4:203–208PubMed

34.

Malaysian Housing and Population Census (2000) Department of Statistics, Malaysia. http://www.statistics.gov.my

35.

Johnson N, Fletcher O, Naceur-Lombardelli C, dos Santos Silva I, Ashworth A, Peto J (2005) Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet 366:1554–1557CrossRefPubMed

36.

Broeks A, de Witte L, Nooijen A, Huseinovic A, Klijn JG, van Leeuwen FE, Russell NS, van’t Veer LJ (2004) Excess risk for contralateral breast cancer in CHEK2*1100delC germline mutation carriers. Breast Cancer Res Treat 83:91–93CrossRefPubMed

37.

Friedrichsen DM, Malone KE, Doody DR, Daling JR, Ostrander EA (2004) Frequency of CHEK2 mutations in a population based, case–control study of breast cancer in young women. Breast Cancer Res 6:R629–R635CrossRefPubMed

Title: CHEK2*1100delC does not contribute to risk to breast cancer among Malay, Chinese and Indians in Malaysia
Authors: Eswary Thirthagiri
Leng San Cheong
Cheng Har Yip
Soo-Hwang Teo
Publication date: 01-12-2009
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 4/2009
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9244-x

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