Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 34

1.

Outcomes of 92 patient-driven family studies for reclassification of variants of uncertain significance.

Tsai GJ, Rañola JMO, Smith C, Garrett LT, Bergquist T, Casadei S, Bowen DJ, Shirts BH.

Genet Med. 2019 Jun;21(6):1435-1442. doi: 10.1038/s41436-018-0335-7. Epub 2018 Oct 30.

PMID:
30374176
2.

Inherited Breast Cancer in Nigerian Women.

Zheng Y, Walsh T, Gulsuner S, Casadei S, Lee MK, Ogundiran TO, Ademola A, Falusi AG, Adebamowo CA, Oluwasola AO, Adeoye A, Odetunde A, Babalola CP, Ojengbede OA, Odedina S, Anetor I, Wang S, Huo D, Yoshimatsu TF, Zhang J, Felix GES, King MC, Olopade OI.

J Clin Oncol. 2018 Oct 1;36(28):2820-2825. doi: 10.1200/JCO.2018.78.3977. Epub 2018 Aug 21.

3.

A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing.

Wehr C, Grotius K, Casadei S, Bleckmann D, Bode SFN, Frye BC, Seidl M, Gulsuner S, King MC, Percival MB, Pritchard CC, Walsh T, Wu D, Keel S, Salzer U.

Blood. 2018 Sep 13;132(11):1211-1215. doi: 10.1182/blood-2018-03-837336. Epub 2018 Jul 20. No abstract available.

PMID:
30030275
4.

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.

Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King MC.

Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30.

5.

Mutations in Homologous Recombination Genes and Outcomes in Ovarian Carcinoma Patients in GOG 218: An NRG Oncology/Gynecologic Oncology Group Study.

Norquist BM, Brady MF, Harrell MI, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Burger RA, Tewari KS, Backes F, Mannel RS, Glaser G, Bailey C, Rubin S, Soper J, Lankes HA, Ramirez NC, King MC, Birrer MJ, Swisher EM.

Clin Cancer Res. 2018 Feb 15;24(4):777-783. doi: 10.1158/1078-0432.CCR-17-1327. Epub 2017 Nov 30.

6.

Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.

JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.

7.

Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.

Lolas Hamameh S, Renbaum P, Kamal L, Dweik D, Salahat M, Jaraysa T, Abu Rayyan A, Casadei S, Mandell JB, Gulsuner S, Lee MK, Walsh T, King MC, Levy-Lahad E, Kanaan M.

Int J Cancer. 2017 Aug 15;141(4):750-756. doi: 10.1002/ijc.30771. Epub 2017 May 19.

8.

Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2.

Catucci I, Casadei S, Ding YC, Volorio S, Ficarazzi F, Falanga A, Marchetti M, Tondini C, Franchi M, Adamson A, Mandell J, Walsh T, Olopade OI, Manoukian S, Radice P, Ricker C, Weitzel J, King MC, Peterlongo P, Neuhausen SL.

Breast Cancer Res Treat. 2016 Nov;160(1):121-129. Epub 2016 Sep 13.

9.

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS.

N Engl J Med. 2016 Aug 4;375(5):443-53. doi: 10.1056/NEJMoa1603144. Epub 2016 Jul 6.

10.

Physico-chemical properties and biological effects of diesel and biomass particles.

Longhin E, Gualtieri M, Capasso L, Bengalli R, Mollerup S, Holme JA, Øvrevik J, Casadei S, Di Benedetto C, Parenti P, Camatini M.

Environ Pollut. 2016 Aug;215:366-375. doi: 10.1016/j.envpol.2016.05.015. Epub 2016 May 15.

PMID:
27194366
11.

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PMID:
26845104
12.

Inherited Mutations in Women With Ovarian Carcinoma.

Norquist BM, Harrell MI, Brady MF, Walsh T, Lee MK, Gulsuner S, Bernards SS, Casadei S, Yi Q, Burger RA, Chan JK, Davidson SA, Mannel RS, DiSilvestro PA, Lankes HA, Ramirez NC, King MC, Swisher EM, Birrer MJ.

JAMA Oncol. 2016 Apr;2(4):482-90. doi: 10.1001/jamaoncol.2015.5495.

13.

Inherited predisposition to breast cancer among African American women.

Churpek JE, Walsh T, Zheng Y, Moton Z, Thornton AM, Lee MK, Casadei S, Watts A, Neistadt B, Churpek MM, Huo D, Zvosec C, Liu F, Niu Q, Marquez R, Zhang J, Fackenthal J, King MC, Olopade OI.

Breast Cancer Res Treat. 2015 Jan;149(1):31-9. doi: 10.1007/s10549-014-3195-0. Epub 2014 Nov 27.

14.

Breast-cancer risk in families with mutations in PALB2.

Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M.

N Engl J Med. 2014 Aug 7;371(6):497-506. doi: 10.1056/NEJMoa1400382.

15.

Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis.

Shirts BH, Salipante SJ, Casadei S, Ryan S, Martin J, Jacobson A, Vlaskin T, Koehler K, Livingston RJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2014 Oct;16(10):783-6. doi: 10.1038/gim.2014.30. Epub 2014 Mar 27.

16.

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM.

Clin Cancer Res. 2014 Feb 1;20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. Epub 2013 Nov 15.

17.

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H; Consortium on the Genetics of Schizophrenia (COGS); PAARTNERS Study Group, Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM.

Cell. 2013 Aug 1;154(3):518-29. doi: 10.1016/j.cell.2013.06.049.

18.

Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing.

Norquist BM, Pennington KP, Agnew KJ, Harrell MI, Pennil CC, Lee MK, Casadei S, Thornton AM, Garcia RL, Walsh T, Swisher EM.

Gynecol Oncol. 2013 Mar;128(3):483-7. doi: 10.1016/j.ygyno.2012.12.015. Epub 2012 Dec 19.

19.

Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

Wickramanayake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T, King MC, Swisher EM.

Gynecol Oncol. 2012 Dec;127(3):552-5. doi: 10.1016/j.ygyno.2012.09.009. Epub 2012 Sep 14. Erratum in: Gynecol Oncol. 2014 Jan;132(1):260. Wickramanyake, Anneka [corrected to Wickramanayake, Anneka].

20.

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM.

Proc Natl Acad Sci U S A. 2011 Nov 1;108(44):18032-7. doi: 10.1073/pnas.1115052108. Epub 2011 Oct 17.

21.

Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, King MC.

Cancer Res. 2011 Mar 15;71(6):2222-9. doi: 10.1158/0008-5472.CAN-10-3958. Epub 2011 Feb 1.

22.

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR.

Breast Cancer Res Treat. 2011 Jun;127(3):671-9. doi: 10.1007/s10549-010-1036-3. Epub 2010 Jul 22.

23.

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing.

Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC.

Proc Natl Acad Sci U S A. 2010 Jul 13;107(28):12629-33. doi: 10.1073/pnas.1007983107. Epub 2010 Jun 28.

24.

Disease family history and modification of breast cancer risk in common BRCA2 variants.

Seymour IJ, Casadei S, Zampiga V, Rosato S, Danesi R, Falcini F, Strada M, Morini N, Naldoni C, Paradiso A, Tommasi S, Schittulli F, Amadori D, Calistri D.

Oncol Rep. 2008 Mar;19(3):783-6.

PMID:
18288416
25.

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations.

Seymour IJ, Casadei S, Zampiga V, Rosato S, Danesi R, Scarpi E, Falcini F, Strada M, Morini N, Naldoni C, Amadori D, Calistri D.

Breast Cancer Res Treat. 2008 Nov;112(2):343-9. Epub 2007 Dec 20.

PMID:
18092194
26.

655Val and 1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations.

Tommasi S, Fedele V, Lacalamita R, Bruno M, Schittulli F, Ginzinger D, Scott G, Eppenberger-Castori S, Calistri D, Casadei S, Seymour I, Longo S, Giannelli G, Pilato B, Simone G, Benz CC, Paradiso A.

Cell Oncol. 2007;29(3):241-8.

27.

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

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.

JAMA. 2006 Mar 22;295(12):1379-88.

PMID:
16551709
28.

Population-based screening for hereditary breast cancer in a region of North-Central Italy.

Casadei S, Falcini F, Naldoni C, Amadori D, Calistri D.

Int J Mol Med. 2002 Sep;10(3):299-305.

PMID:
12165804
29.

Intralesional granulocyte-monocyte colony-stimulating factor followed by subcutaneous interleukin-2 in metastatic melanoma: a pilot study in elderly patients.

Ridolfi L, Ridolfi R, Ascari-Raccagni A, Fabbri M, Casadei S, Gatti A, Trevisan G, Righini MG.

J Eur Acad Dermatol Venereol. 2001 May;15(3):218-23.

PMID:
11683284
30.

Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.

Casadei S, Cortesi L, Pensotti V, Radice P, Pierotti M, Amadori D, Calistri D.

Br J Cancer. 2001 Sep 14;85(6):845-9.

31.

Treatment of brain metastases of malignant melanoma with temozolomide.

Biasco G, Pantaleo MA, Casadei S.

N Engl J Med. 2001 Aug 23;345(8):621-2. No abstract available.

PMID:
11529230
32.

As originally published in 1992: Chest wall stabilization with synthetic reabsorbable material. Updated in 1999.

Puma F, Ragusa M, Santoprete S, Ricci F, Casadei S, Urbani M, Daddi G.

Ann Thorac Surg. 1999 Jun;67(6):1823-4. No abstract available.

PMID:
10391314
33.

Resection with curative intent after endoscopic treatment of airway obstruction.

Daddi G, Puma F, Avenia N, Santoprete S, Casadei S, Urbani M.

Ann Thorac Surg. 1998 Jan;65(1):203-7.

PMID:
9456118
34.

Evaluation of the minimum instream flow of the tiber river basin.

Ubertini L, Manciola P, Casadei S.

Environ Monit Assess. 1996 Jun;41(2):125-36. doi: 10.1007/BF00394339.

PMID:
24193309

Supplemental Content

Loading ...
Support Center