A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer

BMC Cancer

Volumn 14, Issue 1, 2014, Pages

  Pradella, Laura M ^a   Evangelisti, Cecilia ^b   Ligorio, Claudia ^a   Ceccarelli, Claudio ^a   Neri, Iria ^a   Zuntini, Roberta ^a   Amato, Laura B ^a   Ferrari, Simona ^b   Martelli, Alberto M ^b   Gasparre, Giuseppe ^a   Turchetti, Daniela ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Cowden syndrome; Hereditary breast cancer; PI3K Akt mTOR pathway; PTEN

Indexed keywords

ADULT; AGE OF ONSET; BREAST NEOPLASMS; CARCINOMA, DUCTAL, BREAST; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; MUTATION; PHENOTYPE; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-AKT; PTEN PHOSPHOHYDROLASE; SIGNAL TRANSDUCTION;

EID: 84893173397     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-14-70     Document Type: Article

References (21)

1. Turchetti D, Cortesi L, Federico M, Bertoni C, Mangone L, Ferrari S, Silingardi V. BRCA1 mutations and clinicopathological features in a sample of Italian women with early-onset breast cancer. Eur J Cancer 2000, 36(16):2083-2089. 10.1016/S0959-8049(00)00287-2, 11044645.
2. Musolino A, Bella MA, Bortesi B, Michiara M, Naldi N, Zanelli P, Capelletti M, Pezzuolo D, Camisa R, Savi M, Neri TM, Ardizzoni A. BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study. Breast 2007, 16(3):280-292. 10.1016/j.breast.2006.12.003, 17257844.
3. Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA. BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history. JAMA 1998, 279(12):922-929. 10.1001/jama.279.12.922, 9544766.
4. Peto J, Collins N, Barfoot R, Seal S, Warren W, Rahman N, Easton DF, Evans C, Deacon J, Stratton MR. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 1999, 91(11):943-949. 10.1093/jnci/91.11.943, 10359546.
5. Loizidou M, Marcou Y, Anastasiadou V, Newbold R, Hadjisavvas A, Kyriacou K. Contribution of BRCA1 and BRCA2 germline mutations to the incidence of early-onset breast cancer in Cyprus. Clin Genet 2007, 71(2):165-170. 10.1111/j.1399-0004.2007.00747.x, 17250666.
6. Bose S, Wang SI, Terry MB, Hibshoosh H, Parsons R. Allelic loss of chromosome 10q23 is associated with tumor progression in breast carcinomas. Oncogene 1998, 17(1):123-127. 10.1038/sj.onc.1201940, 9671321.
7. Feilotter HE, Coulon V, McVeigh JL, Boag AH, Dorion-Bonnet F, Duboue B, Latham WC, Eng C, Mulligan LM, Longy M. Analysis of the 10q23 chromosomal region and the PTEN gene in human sporadic breast carcinoma. Br J Cancer 1999, 79(5-6):718-723. 2362663, 10070859.
8. 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):400-407. 10.1158/1078-0432.CCR-11-2283, 3261579, 22252256.
9. Vega A, Torres J, Torres M, Cameselle-Teijeiro J, Macia M, Carracedo A, Pulido R. A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. J Invest Dermatol 2003, 121(6):1356-1359. 10.1111/j.1523-1747.2003.12638.x, 14675182.
10. Zielke A, Tezelman S, Jossart GH, Wong M, Siperstein AE, Duh QY, Clark OH. Establishment of a highly differentiated thyroid cancer cell line of Hürthle cell origin. Thyroid 1998, 8(6):475-483. 10.1089/thy.1998.8.475, 9669284.
11. Graeser MK, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, Froster UG, Schlehe B, Bechtold A, Arnold N, Preisler-Adams S, Nestle-Kraemling C, Zaino M, Loeffler M, Kiechle M, Meindl A, Varga D, Schmutzler RK. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2009, 27(35):5887-5892. 10.1200/JCO.2008.19.9430, 19858402.
12. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F, French Cowden Disease Network High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013, 50(4):255-263. 10.1136/jmedgenet-2012-101339, 23335809, French Cowden Disease Network.
13. Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pratc 2010, 8(1):6.
14. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013, 105(21):1607-1616. 10.1093/jnci/djt277, 24136893.
15. Celebi JT, Tsou HC, Chen FF, Zhang H, Ping XL, Lebwohl MG, Kezis J, Peacocke M. Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. J Med Genet 1999, 36(5):360-364. 1734369, 10353779.
16. Melbārde-Gorkuša I, Irmejs A, Bērziņa D, Strumfa I, Aboliņš A, Gardovskis A, Subatniece S, Trofimovičs G, Gardovskis J, Miklaševičs E. Challenges in the management of a patient with Cowden syndrome: case report and literature review. Hered Cancer Clin Pract 2012, 10:5. 10.1186/1897-4287-10-5, 3350443, 22503188.
17. Chen Z, Trotman LC, Shaffer D, Lin HK, Dotan ZA, Niki M, Koutcher JA, Scher HI, Ludwig T, Gerald W, Cordon-Cardo C, Pandolfi PP. Crucial role of p53-dependent cellular senescence in suppression of Pten-deficient tumorigenesis. Nature 2005, 436:725-730. 10.1038/nature03918, 1939938, 16079851.
18. Banneau G, Guedj M, MacGrogan G, De Mascarel I, Velasco V, Schiappa R, Bonadona V, David A, Dugast C, Gilbert-Dussardier B, Ingster O, Vabres P, Caux F, De Reynies A, Iggo R, Sevenet N, Bonnet F, Longy M. Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. Breast Cancer Res 2010, 12(4):R63. 10.1186/bcr2626, 2949656, 20712882.
19. Berger AH, Knudson AG, Pandolfi PP. A continuum model for tumour suppression. Nature 2011, 476(7359):163-169. 10.1038/nature10275, 3206311, 21833082.
20. Pradella LM, Zuntini R, Magini P, Ceccarelli C, Neri I, Cerasoli S, Graziano C, Gasparre G, Turchetti D. Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion. J Med Genet 2011, 48(11):779-782. 10.1136/jmedgenet-2011-100152, 21926107.
21. Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, Mackay A, Reis-Filho JS, Seri M, Turchetti D, Gasparre G. Where Birt-Hogg-Dube meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours. Eur J Hum Genet 2013, 21(10):1169-1172. 10.1038/ejhg.2013.8, 23386036.