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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 1/2014

Open Access 01-12-2014 | Research

Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma

Authors: Ewout P Boesaard, Ingrid P Vogelaar, Peter Bult, Carla AP Wauters, J Han JM van Krieken, Marjolijn JL Ligtenberg, Rachel S van der Post, Nicoline Hoogerbrugge

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2014

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Abstract

MUTYH- associated polyposis (MAP) is an autosomal recessive disease, which predisposes to polyposis and colorectal cancer. There is a trend towards an increased risk of breast cancer in MAP patients, with a remarkable proportion of papillary breast cancers. To determine whether MUTYH mutations are associated with this specific and rare type of breast cancer, 53 unselected patients with papillary breast cancer were analyzed for founder mutations in the MUTYH gene. No germline mutations were identified, indicating that biallelic MUTYH mutations are not a frequent underlying cause for the development of papillary carcinomas of the breast.
Literature
1.
Al-Tassan N, Chmiel NH, Maynard J, Fleming N, Livingston AL, Williams GT, Hodges AK, Davies DR, David SS, Sampson JR, Cheadle JP: Inherited variants of MYH associated with somatic G:C– > T:A mutations in colorectal tumors. Nat Genet 2002, 30: 227–232. 10.1038/ng828CrossRefPubMed
2.
Jones S, Emmerson P, Maynard J, Best JM, Jordan S, Williams GT, Sampson JR, Cheadle JP: Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C– > T:A mutations. Hum Mol Genet 2002, 11: 2961–2967. 10.1093/hmg/11.23.2961CrossRefPubMed
3.
Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Jordan S, Maher ER, Mak T, Maynard J, Pigatto F, Shaw J, Cheadle JP: Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 2003, 362: 39–41. 10.1016/S0140-6736(03)13805-6CrossRefPubMed
4.
Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003, 348: 791–799. 10.1056/NEJMoa025283CrossRefPubMed
5.
Shibutani S, Takeshita M, Grollman AP: Insertion of specific bases during DNA synthesis past the oxidation-damaged base 8-oxodG. Nature 1991, 349: 431–434. 10.1038/349431a0CrossRefPubMed
6.
Slupska MM, Luther WM, Chiang JH, Yang H, Miller JH: Functional expression of hMYH, a human homolog of the Escherichia coli MutY protein. J Bacteriol 1999, 181: 6210–6213.PubMedPubMedCentral
7.
Takao M, Zhang QM, Yonei S, Yasui A: Differential subcellular localization of human MutY homolog (hMYH) and the functional activity of adenine:8-oxoguanine DNA glycosylase. Nucleic Acids Res 1999, 27: 3638–3644. 10.1093/nar/27.18.3638CrossRefPubMedPubMedCentral
8.
Nielsen M, Franken PF, Reinards TH, Weiss MM, Wagner A, van der Klift H, Kloosterman S, Houwing-Duistermaat JJ, Aalfs CM, Ausems MG, Brocker-Vriends AH, Gomez Garcia EB, Hoogerbrugge N, Menko FH, Sijmons RH, Verhoef S, Kuipers EJ, Morreau H, Breuning MH, Tops CM, Wijnen JT, Vasen HF, Fodde R, Hes FJ: Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 2005, 42: e54. 10.1136/jmg.2005.033217CrossRefPubMedPubMedCentral
9.
Van Puijenbroek M, Nielsen M, Tops CM, Halfwerk H, Vasen HF, Weiss MM, Van Wezel T, Hes FJ, Morreau H: Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res 2008, 14: 139–142. 10.1158/1078-0432.CCR-07-1705CrossRefPubMed
10.
Vogt S, Jones N, Christian D, Engel C, Nielsen M, Kaufmann A, Steinke V, Vasen HF, Propping P, Sampson JR, Hes FJ, Aretz S: Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009, 137: 1976–1985. e1971–1910 10.1053/j.gastro.2009.08.052CrossRefPubMed
11.
Beiner ME, Zhang WW, Zhang S, Gallinger S, Sun P, Narod SA: Mutations of the MYH gene do not substantially contribute to the risk of breast cancer. Breast Cancer Res Treat 2009, 114: 575–578. 10.1007/s10549-008-0042-1CrossRefPubMed
12.
Zhang Y, Newcomb PA, Egan KM, Titus-Ernstoff L, Chanock S, Welch R, Brinton LA, Lissowska J, Bardin-Mikolajczak A, Peplonska B, Szeszenia-Dabrowska N, Zatonski W, Garcia-Closas M: Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2006, 15: 353–358. 10.1158/1055-9965.EPI-05-0653CrossRefPubMed
13.
Wasielewski M, Out AA, Vermeulen J, Nielsen M, van den Ouweland A, Tops CM, Wijnen JT, Vasen HF, Weiss MM, Klijn JG, Devilee P, Hes FJ, Schutte M: Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. Breast Cancer Res Treat 2010, 124: 635–641. 10.1007/s10549-010-0801-7CrossRefPubMed
14.
Out AA, Wasielewski M, Huijts PE, Van Minderhout IJ, Houwing-Duistermaat JJ, Tops CM, Nielsen M, Seynaeve C, Wijnen JT, Breuning MH, Van Asperen CJ, Schutte M, Hes FJ, Devilee P: MUTYH gene variants and breast cancer in a Dutch case–control study. Breast Cancer Res Treat 2012, 134: 219–227. 10.1007/s10549-012-1965-0CrossRefPubMedPubMedCentral
15.
Rennert G, Lejbkowicz F, Cohen I, Pinchev M, Rennert HS, Barnett-Griness O: MutYH mutation carriers have increased breast cancer risk. Cancer 2012, 118: 1989–1993. 10.1002/cncr.26506CrossRefPubMed
16.
Li CI, Moe RE, Daling JR: Risk of mortality by histologic type of breast cancer among women aged 50 to 79 years. Arch Intern Med 2003, 163: 2149–2153. 10.1001/archinte.163.18.2149CrossRefPubMed
17.
Louwman MW, Vriezen M, Van Beek MW, Nolthenius-Puylaert MC, van der Sangen MJ, Roumen RM, Kiemeney LA, Coebergh JW: Uncommon breast tumors in perspective: incidence, treatment and survival in the Netherlands. Int J Cancer 2007, 121: 127–135. 10.1002/ijc.22625CrossRefPubMed
18.
19.
Lefkowitz M, Lefkowitz W, Wargotz ES: Intraductal (intracystic) papillary carcinoma of the breast and its variants: a clinicopathological study of 77 cases. Hum Pathol 1994, 25: 802–809. 10.1016/0046-8177(94)90250-XCrossRefPubMed
20.
Wynveen CA, Nehhozina T, Akram M, Hassan M, Norton L, Van Zee KJ, Brogi E: Intracystic papillary carcinoma of the breast: an in situ or invasive tumor? Results of immunohistochemical analysis and clinical follow-up. Am J Surg Pathol 2011, 35: 1–14. 10.1097/PAS.0b013e3181fbe20aCrossRefPubMed
21.
Collins LC, Carlo VP, Hwang H, Barry TS, Gown AM, Schnitt SJ: Intracystic papillary carcinomas of the breast: a reevaluation using a panel of myoepithelial cell markers. Am J Surg Pathol 2006, 30: 1002–1007. 10.1097/00000478-200608000-00011CrossRefPubMed
22.
Kattentidt Mouravieva AA, Geurts-Giele IR, De Krijger RR, Van Noesel MM, van de Ven CP, van den Ouweland AM, Kromosoeto JN, Dinjens WN, Dubbink HJ, Smits R, Wagner A: Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours. Eur J Cancer 2012, 48: 1867–1874. 10.1016/j.ejca.2012.01.004CrossRefPubMed
23.
Wang WL, Nero C, Pappo A, Lev D, Lazar AJ, Lopez-Terrada D: CTNNB1 genotyping and APC screening in pediatric desmoid tumors: a proposed algorithm. Pediatr Dev Pathol 2012, 15: 361–367. 10.2350/11-07-1064-OA.1CrossRefPubMed
24.
Ferguson SE, Aronson M, Pollett A, Eiriksson LR, Oza AM, Gallinger S, Lerner-Ellis J, Alvandi Z, Bernardini MQ, MacKay HJ, Mojtahedi G, Tone AA, Massey C, Clarke BA: Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing. Cancer 2014, 120: 3932–3939.CrossRefPubMed
25.
Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, Penzone P, Lombardi J, Dunn P, Cohn DE, Copeland L, Eaton L, Fowler J, Lewandowski G, Vaccarello L, Bell J, Reid G, de la Chapelle A: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006, 66: 7810–7817. 10.1158/0008-5472.CAN-06-1114CrossRefPubMed
Metadata
Title
Germline MUTYH gene mutations are not frequently found in unselected patients with papillary breast carcinoma
Authors
Ewout P Boesaard
Ingrid P Vogelaar
Peter Bult
Carla AP Wauters
J Han JM van Krieken
Marjolijn JL Ligtenberg
Rachel S van der Post
Nicoline Hoogerbrugge
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2014
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-12-21

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