Collaborative Group on Hormonal Factors in Breast Cancer. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet. 2001;358(9291):1389–99.
Article
Google Scholar
Couch FJ, Nathanson KL, Offit K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science. 2014;343(6178):1466–70.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zhou XP, Marsh DJ, Morrison CD, Chaudhury AR, Maxwell M, Reifenberger G, et al. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet. 2003;73(5):1191–8.
Article
CAS
PubMed
PubMed Central
Google Scholar
Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract. 2010;8(1):6.
Article
PubMed
PubMed Central
Google Scholar
Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18(2):400–7.
Article
CAS
PubMed
PubMed Central
Google Scholar
Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW. Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet. 2011;48(8):505–12.
Article
CAS
PubMed
Google Scholar
Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011;88(1):42–56.
Article
CAS
PubMed
PubMed Central
Google Scholar
Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996;13(1):114–6.
Article
CAS
PubMed
Google Scholar
Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet. 1998;7(3):507–15.
Article
CAS
PubMed
Google Scholar
Stambolic V, Suzuki A, de la Pompa JL, Brothers GM, Mirtsos C, Sasaki T, et al. Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell. 1998;95(1):29–39.
Article
CAS
PubMed
Google Scholar
Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61–70.
Article
Google Scholar
Kanayama Y, Noshima S, Samura M, Okazaki M, Zenpo N, Kamei T, et al. A case of Cowden disease with multiple primary cancer. J Jpn Surg Assoc. 2011;72(12):3026–9.
Article
Google Scholar
Morse CB, Garcia RL, Calhoun KE, Swisher EM. Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care. Gynecol Oncol Rep. 2015;9(12):13–6.
Article
Google Scholar
Kalin A, Merideth MA, Regier DS, Blumenthal GM, Dennis PA, Stratton P. Management of reproductive health in Cowden syndrome complicated by endometrial polyps and breast cancer. Obstet Gynecol. 2013;121(2 Pt 2 Suppl 1):461–4.
PubMed
PubMed Central
Google Scholar
Peiró G, Adrover E, Guijarro J, Ballester I, Jimenez MJ, Planelles M, et al. Synchronous bilateral breast carcinoma in a patient with Cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. Breast J. 2010;16(1):77–81.
Article
PubMed
Google Scholar
Erickson J, Lyon DE. Breast cancer in Cowden syndrome. Manifestation of a familial cancer syndrome. Clin J Oncol Nurs. 2010;14(1):33–5.
Article
PubMed
Google Scholar
Winter H, McEwen A. Cowden syndrome presenting as advanced breast cancer in a young woman with macrocephaly. Intern Med J. 2012;42(10):1160–1.
Article
CAS
PubMed
Google Scholar
Seo M, Cho N, Ahn HS, Moon HG. Cowden syndrome presenting as breast cancer: imaging and clinical features. Korean J Radiol. 2014;15(5):586–90.
Article
PubMed
PubMed Central
Google Scholar
Sabaté JM, Gómez A, Torrubia S, Blancas C, Sánchez G, Alonso MC, et al. Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations. Eur Radiol. 2006;16(3):702–6.
Article
PubMed
Google Scholar
Ball S, Arolker M, Purushotham AD. Breast cancer, Cowden disease and PTEN-MATCHS syndrome. Eur J Surg Oncol. 2001;27(6):604–6.
Article
CAS
PubMed
Google Scholar
Walsh S, Carter M, Tubridy N, McDermott EW. Lhermitte-Duclos and Cowden diseases: breast cancer as an unusual initial presentation of these overlapping conditions. BMJ Case Rep. 2011;20:bcr0820114730.
Google Scholar
Fackenthal JD, Marsh DJ, Richardson AL, Cummings SA, Eng C, Robinson BG, et al. Male breast cancer in Cowden syndrome patients with germline PTEN mutations. J Med Genet. 2001;38(3):159–64.
Article
CAS
PubMed
PubMed Central
Google Scholar
Baù MG, Arisio R, Cristini G, Bertone E, Campogrande M. Screening-detected breast carcinoma in a patient with Cowden syndrome. Breast. 2004;13(3):239–41.
Article
PubMed
Google Scholar
Nakamura T, Sako H, Harada S, Watanabe N, Okugawa K, Nakano K, et al. A case of Cowden syndrome. J Kyoto Pref Univ Med. 2012;121(4):223–9.
Google Scholar
Kikuchi S, Uchino M, Noguchi S, Yamashita H, Kawaguchi H. A case of Cowden disease with thyroid mass, parathyroid adenoma and breast cancer. Folia Endocrinol Japonica. 2014;90(2):523 (in Japanese).
Google Scholar
Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, et al. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010;8(5):562–94.
Article
CAS
PubMed
Google Scholar
Bevers TB, Anderson BO, Bonaccio E, Buys S, Daly MB, Dempsey PJ, et al.; National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: breast cancer screening and diagnosis. J Natl Compr Canc Netw. 2009; 7(10): 1060-96.
Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, et al.; American Cancer Society Breast Cancer Advisory Group. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007; 57(2): 75-89.
Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. 2009;18(1):13–27.
Article
PubMed
Google Scholar
Ohuchi N, Suzuki A, Sobue T, Kawai M, Yamamoto S, Zheng YF, et al.; J-START investigator groups. Sensitivity and specificity of mammography and adjunctive ultrasonography to screen for breast cancer in the Japan Strategic Anti-cancer Randomized Trial (J-START): a randomised controlled trial. Lancet. 2015; S0140-6736 (15): 00774-6.