BIOGRAPHICAL SKETCH.
NAME
POSITION TITLE
Silvia Casadei, PhD
Research Geneticist
EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing,
and include postdoctoral training.)
INSTITUTION AND LOCATION
DEGREE
YEAR(s)
FIELD OF STUDY
(if applicable)
University of Florence, Italy
BA
1999
Biological Sciences
University of Milan, Italy
PhD
2003
Molecular and Cellular Biology
PERSONAL STATEMENT
I am a Research Geneticist working closely with Dr Mary-Claire King and Dr Tom Walsh on genetic
analysis of inherited predisposition to breast cancer using genomic technologies. I joined the King lab after
completing my PhD at the University of Milan, Italy. My PhD project was the study of known breast cancer
genes in severely affected breast cancer families in a region of Northern Italy. As a postdoctoral fellow in
the King lab, I studied the spectrum of rare variation in candidate breast cancer genes and perfected the
use of genomic approaches for detecting non-conventional mutations including splice alterations and
enhancements, mosaic events, and mutations in severely duplicated genomic regions of breast cancer
genes. Now as research geneticist, I am responsible for validation of all candidate variants identified by
our genomic technologies, for their functional characterization at the transcript level, and for the
determination of allele frequencies in ancestrally matched case series and control populations. One of my
special interests are mutations in small exons of genes which alter transcription by disrupting splicing
enhancer motifs. I study these gene alterations using prediction software’s and make decisions on whether
to prioritize them for experimental follow-up based on the concordance of the in silico responses.
PROFESSIONAL EXPERIENCE
1999-2000
Graduate Fellow in Molecular Evolution and Genetics
Department of Genetics
University of Florence, Italy
2000-2005
Graduate Fellow & Research Scientist, Molecular Genetics Laboratory
Department of Oncology
Morgagni-Pierantoni Hospital, Forlì, Italy
2006-2010
Susan G Komen Postdoctoral Fellow
Departments of Medicine (Medical Genetics) and Genome Sciences
University of Washington, Seattle
2010-
Research Geneticist
Departments of Medicine (Medical Genetics) and Genome Sciences
University of Washington, Seattle
HONORS AND MEMBERSHIPS
1995-1996
ERASMUS European Union Undergraduate Research Fellowship
Randall Institute, King’s College, UK
2000-2003
University of Milan and Oncology Institute of Romagna, Predoctoral Fellowship
2005-
Member, American Society of Human Genetics.
2006-2010
Susan G Komen Postdoctoral Fellowship
2011
ASHG Trainee Research Semifinalist Award
PEER REVIEWED PUBLICATIONS
5 most relevant to present
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 I, Radice P, Tondini C, Manoukian S, Toland
AE, Miron P, kConFab, Weitzel JN, Domchek SM, Poppe B, Claes KBM, Yannoukakos D, Concannon P,
Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna , King MC,
Couch FJ, Southey MC, Winqvist R, Foulkes WD, Tischkowitz M. Inherited loss-of-function mutations in PALB2
and breast cancer risk. N Engl J Med. 2014 [In review].
Bernier G, Walsh T, Mandell J, Casadei S, Lee K, Thornton AM, Bennett RL, King MC, Swisher EM. Inherited
mutations in BRCA1- and BRCA2-related genes contribute to triple negative breast cancer. J Clin Onc. 2014
[Submitted].
Shirts BH, Salipante SJ, Casadei S, Ryan S, Martin J, Jacobson A, Vlaskin T, Koehler K, Livingston RJ, King
MC, Walsh T, Pritchard CC. Deep sequencing with intronic capture enables identification of an APC exon 10
inversion in a patient with polyposis. Genet Med. 2014 Mar 27 [Epub ahead of print]
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. Mutations in 12 genes for
inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc
Natl Acad Sci U S A. 2011; 108(44): 18032-7.
Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, King MC.
7. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
Cancer Res. 2011; 71:2222-9.
Other peer-reviewed publications
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. Germline and somatic
mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian
tube, and peritoneal carcinomas. Clin Cancer Res. 2014; 20(3): 764-75.
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. Spatial and temporal mapping of de novo mutations
in schizophrenia to a fetal prefrontal cortical network. Cell. 2013; 154: 518-29.
Norquist BM, Pennington KP, Agnew KJ, Harrell MI, Pennil CC, Lee MK, Casadei S, Thornton AM, Garcia RL,
Walsh T, Swisher EM. Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2
mutations not identified by clinical testing. Gynecol Oncol. 2013; 128: 483-7.
Wickramanayake A, Bernier G, Pennil C, Casadei S, Agnew KJ, Stray SM, Mandell J, Garcia RL, Walsh T,
King MC, Swisher EM. Loss of function germline mutations in RAD51D in women with ovarian carcinoma.
Gynecol Oncol. 2012; 127: 552-5.
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. Mutations in 12 genes for
inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc
Natl Acad Sci U S A. 2011; 108(44): 18032-7.
Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, King MC.
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
Cancer Res. 2011; 71: 2222-9.
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. International distribution and age
estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res Treat. 2011; 127:
671-9.
Walsh T, Lee MK, Casadei S, Thornton AM, Stray SM, Pennil C, Nord AS, Mandell JB, Swisher EM, King MC.
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel
sequencing. Proc Natl Acad Sci U S A. 2010; 107(28): 12629-33.
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. Disease family history and modification of breast cancer risk in
common BRCA2 variants. Oncol Rep. 2008; 19: 783-6.
Seymour IJ, Casadei S, Zampiga V, Rosato S, Danesi R, Scarpi E, Falcini F, Strada M, Morini N, Naldoni C,
Amadori D, Calistri D. Results of a population-based screening for hereditary breast cancer in a region
of North-Central Italy: contribution of BRCA1/2 germ-line mutations. Breast Cancer Res Treat. 2008; 112: 3439.
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. 655Val and
1170Pro ERBB2 SNPs in familial breast cancer risk and BRCA1 alterations. Cell Oncol. 2007; 29: 241-8.
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. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at
high risk of breast cancer. JAMA. 2006; 295(12): 1379-88.
Casadei S, Falcini F, Naldoni C, Amadori D, Calistri D. Population-based screening for hereditary breast
cancer in a region of North-Central Italy. Int J Mol Med. 2002; 10: 299-305.
Casadei S, Cortesi L, Pensotti V, Radice P, Pierotti M, Amadori D, Calistri D. Detection of germline BRCA1
mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method. Br J Cancer. 2001;
85: 845-9.
ACTIVE RESEARCH SUPPORT
NIH/NCI R01CA157744, M-C King and T Walsh (MPIs)
4/2011 – 3/2016
Discovery of new genes for inherited predisposition to breast cancer by whole exome sequencing
Role: Research geneticist responsible for functional characterization of new variants.