Tuya Pal, MD

Where You Are:

Tuya Pal, MD



          •  Pediatrics
          •  Clinical Genetics

          •  Hospital for Sick Children - Clinical Genetics

          •  St. Louis Children's Hospital - Pediatrics

          •  McGill University Fac Of Med - MD

  • Cragun D, DeBate RD, Pal T. Applying public health screening criteria: how does universal newborn screening compare to universal tumor screening for lynch syndrome in adults with colorectal cancer?. J Genet Couns. 2015 Jun;24(3):409-420. Pubmedid: 25323653. Pmcid: PMC4402101.

  • Cragun D, Bonner D, Kim J, Akbari MR, Narod SA, Gomez-Fuego A, Garcia JD, Vadaparampil ST, Pal T. Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer. Breast Cancer Res Treat. 2015 May;151(1):169-176. Pubmedid: 25868867.

  • Vadaparampil ST, Scherr CL, Cragun D, Malo TL, Pal T. Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida. Clin Genet. 2015 May;87(5):473-477. Pubmedid: 24735105. Pmcid: PMC4394045.

  • Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamari?a Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vall?e M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet. 2015 Apr;52(4):224-230. Pubmedid: 25643705. Pmcid: PMC4392196.

  • Cragun D, Camperlengo L, Robinson E, Caldwell M, Kim J, Phelan C, Monteiro AN, Vadaparampil ST, Sellers TA, Pal T. Differences in BRCA counseling and testing practices based on ordering provider type. Genet Med. 2015 Jan;17(1):51-57. Pubmedid: 24922460. Pmcid: PMC4264999.

  • Cragun D, Debate RD, Vadaparampil ST, Baldwin J, Hampel H, Pal T. Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through. Genet Med. 2014 Oct;16(10):773-782. Pubmedid: 24651603. Pmcid: PMC4169758.

  • Daly MB, Pilarski R, Axilbund JE, Buys SS, Crawford B, Friedman S, Garber JE, Horton C, Kaklamani V, Klein C, Kohlmann W, Kurian A, Litton J, Madlensky L, Marcom PK, Merajver SD, Offit K, Pal T, Pasche B, Reiser G, Shannon KM, Swisher E, Voian NC, Weitzel JN, Whelan A, Wiesner GL, Dwyer MA, Kumar R. Genetic/Familial high-risk assessment: breast and ovarian, version 1.2014. J Natl Compr Canc Ne. 2014 Sep;12(9):1326-1338. Pubmedid: 25190698.

  • Radford C, Prince A, Lewis K, Pal T. Factors which impact the delivery of genetic risk assessment services focused on inherited cancer genomics: expanding the role and reach of certified genetics professionals. J Genet Couns. 2014 Aug;23(4):522-530. Pubmedid: 24306140.

  • Quinn GP, Koskan A, Sehovic I, Pal T, Meade C, Gwede CK. Contrasting the ethical perspectives of biospecimen research among individuals with familial risk for hereditary cancer and biomedical researchers: implications for researcher training. Genet Test Mol Biomarkers. 2014 Jul;18(7):467-473. Pubmedid: 24786355. Pmcid: PMC4094006.

  • Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Sun P, Narod SA, Schildkraut J. Risk factors for ovarian cancers with and without microsatellite instability. Int J Gynecol Cancer. 2014 May;24(4):664-669. Pubmedid: 24755492.

  • Pal T, Bonner D, Cragun D, Johnson S, Akbari M, Servais L, Narod S, Vadaparampil S. BRCA sequencing and large rearrangement testing in young Black women with breast cancer. J Community Genet. 2014 Apr;5(2):157-165. Pubmedid: 24013928. Pmcid: PMC3955453.

  • Lee JH, Cragun D, Thompson Z, Coppola D, Nicosia SV, Akbari M, Zhang S, McLaughlin J, Narod S, Schildkraut J, Sellers TA, Pal T. Association between IHC and MSI testing to identify mismatch repair-deficient patients with ovarian cancer. Genet Test Mol Biomarkers. 2014 Apr;18(4):229-235. Pubmedid: 24592941. Pmcid: PMC3976593.

  • Cragun D, Radford C, Dolinsky J, Caldwell M, Chao E, Pal T. Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. Clin Genet. 2014 Feb. Pubmedid: 24506336.

  • Pal T, Lee JH, Besharat A, Thompson Z, Monteiro A, Phelan C, Lancaster J, Metcalfe K, Sellers T, Vadaparampil S, Narod S. Modes of delivery of genetic testing services and the uptake of cancer risk management strategies in BRCA1 and BRCA2 carriers. Clin Genet. 2014 Jan;85(1):49-53. Pubmedid: 23438721.

  • Cragun D, Pal T. Identification, Evaluation, and Treatment of Patients with Hereditary Cancer Risk within the United States. ISRN Oncol. 2013 Dec;2013:260847. Pubmedid: 24455306. Pmcid: PMC3884954.

  • Cragun D, Besharat AD, Lewis C, Vadaparampil ST, Pal T. Educational needs and preferred methods of learning among Florida practitioners who order genetic testing for hereditary breast and ovarian cancer. J Cancer Educ. 2013 Dec;28(4):690-697. Pubmedid: 23884548.

  • Pal T, Vadaparampil S, Kim J, Xu Y, Friedman S, Narod SA, Metcalfe K. Interest of individuals from BRCA families to participate in research studies focused on male BRCA carriers. Fam Cancer. 2013 Dec;12(4):615-619. Pubmedid: 23504063.

  • Semple J, Metcalfe KA, Lynch HT, Kim-Sing C, Senter L, Pal T, Ainsworth P, Lubinski J, Tung N, Eng C, Gilchrist D, Blum J, Neuhausen SL, Singer CF, Ghadirian P, Sun P, Narod SA. International Rates of Breast Reconstruction After Prophylactic Mastectomy in BRCA1 and BRCA2 Mutation Carriers. Ann Surg Oncol. 2013 Nov;20(12):3817-3822. Pubmedid: 23740344.

  • Baris HN, Chan WM, Andrews C, Behar DM, Donovan DJ, Morton CC, Ranells J, Pal T, Ligon AH, Engle EC. Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clin Case Rep. 2013 Oct;1(1). Pubmedid: 24416505. Pmcid: PMC3885256.

  • Pal T, Bonner D, Kim J, Monteiro AN, Kessler L, Royer R, Narod SA, Vadaparampil ST. Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics. Breast J. 2013 Sep;19(2):189-192. Pubmedid: 23320992.

  • Quinn GP, Casta?eda H, Pal T, Rice JL, Meade CD, Gwede CK. Risk terminology in biobanking and genetic research: what's in a name?. Am J Med Genet A. 2013 Aug;161A(8):2095-2098. Pubmedid: 23824712. Pmcid: PMC3729791.

  • Segev Y, Pal T, Rosen B, McLaughlin JR, Sellers TA, Risch HA, Zhang S, Ping S, Narod SA, Schildkraut J. Risk factors for ovarian cancers with and without microsatellite instability. Int J Gynecol Cancer. 2013 Jul;23(6):1010-1015. Pubmedid: 23748177. Pmcid: PMC3740723.

  • Pal T, Cragun D, Lewis C, Doty A, Rodriguez M, Radford C, Thompson Z, Kim J, Vadaparampil ST. A statewide survey of practitioners to assess knowledge and clinical practices regarding hereditary breast and ovarian cancer. Genet Test Mol Biomarkers. 2013 May;17(5):367-375. Pubmedid: 23448386. Pmcid: PMC3634150.

  • McLaughlin JR, Rosen B, Moody J, Pal T, Fan I, Shaw PA, Risch HA, Sellers TA, Sun P, Narod SA. Long-term ovarian cancer survival associated with mutation in BRCA1 or BRCA2. J Natl Cancer Inst. 2013 Jan;105(2):141-148. Pubmedid: 23257159. Pmcid: PMC3611851.

  • Coppola D, Nicosia SV, Doty A, Sellers TA, Lee JH, Fulp J, Thompson Z, Galeb S, McLaughlin J, Narod SA, Schildkraut J, Pal T. Uncertainty in the utility of immunohistochemistry in mismatch repair protein expression in epithelial ovarian cancer. Anticancer Res. 2012 Nov;32(11):4963-4969. Pubmedid: 23155266. Pmcid: PMC3919039.

  • Pal T, Akbari MR, Sun P, Lee JH, Fulp J, Thompson Z, Coppola D, Nicosia S, Sellers TA, McLaughlin J, Risch HA, Rosen B, Shaw P, Schildkraut J, Narod SA. Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. Brit J Cancer. 2012 Nov;107(10):1783-1790. Pubmedid: 23047549. Pmcid: PMC3493867.

  • Pal T, Vadaparampil ST. Genetic risk assessments in individuals at high risk for inherited breast cancer in the breast oncology care setting. Cancer Control. 2012 Oct;19(4):255-266. Pubmedid: 23037493. Pmcid: PMC4009502.

  • Vadaparampil ST, Christie J, Quinn GP, Fleming P, Stowe C, Bower B, Pal T. A pilot study to examine patient awareness and provider discussion of the impact of cancer treatment on fertility in a registry-based sample of African American women with breast cancer. Support Care Cancer. 2012 Oct;20(10):2559-2564. Pubmedid: 22270090. Pmcid: PMC3826952.

  • Cragun D, Malo TL, Pal T, Shibata D, Vadaparampil ST. Colorectal cancer survivors' interest in genetic testing for hereditary cancer: implications for universal tumor screening. Genet Test Mol Biomarkers. 2012 Jun;16(6):493-499. Pubmedid: 22224634. Pmcid: PMC3378022.

  • Quinn GP, Pal T, Murphy D, Vadaparampil ST, Kumar A. High-risk consumers' perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis. Genet Med. 2012 Feb;14(2):191-200. Pubmedid: 22261755.

  • Quinn GP, Pal T, Murphy D, Vadaparampil ST, Kumar A. High-risk consumers' perceptions of preimplantation genetic diagnosis for hereditary cancers: A systematic review and meta-analysis. Genet Med. 2012 Feb;14(2):191-200. Pubmedid: 21918462.

  • Vadaparampil ST, Quinn GP, Gjyshi A, Pal T. Development of a brochure for increasing awareness of inherited breast cancer in black women. Genet Test Mol Biomarkers. 2011 Jan-Feb;15(1-2):59-67. Pubmedid: 21275654.

  • Pal T, Rocchio E, Garcia A, Rivers D, Vadaparampil S. Recruitment of black women for a study of inherited breast cancer using a cancer registry-based approach. Genet Test Mol Biomarkers. 2011 Jan-Feb;15(1-2):69-77. Pubmedid: 21117951.

  • Pal T, Stowe C, Cole A, Lee JH, Zhao X, Vadaparampil S. Evaluation of phone-based genetic counselling in African American women using culturally tailored visual aids. Clin Genet. 2010 Aug;78(2):124-131. Pubmedid: 20662853.

  • Daly MB, Axilbund JE, Buys S, Crawford B, Farrell CD, Friedman S, Garber JE, Goorha S, Gruber SB, Hampel H, Kaklamani V, Kohlmann W, Kurian A, Litton J, Marcom PK, Nussbaum R, Offit K, Pal T, Pasche B, Pilarski R, Reiser G, Shannon KM, Smith JR, Swisher E, Weitzel JN. Genetic/familial high-risk assessment: breast and ovarian. J Natl Compr Canc Netw. 2010 May;8(5):562-594. Pubmedid: 20495085.

  • Permuth-Wey J, Vadaparampil S, Rumphs A, Kinney AY, Pal T. Development of a culturally tailored genetic counseling booklet about hereditary breast and ovarian cancer for Black women. Am J Med Genet A. 2010 Apr;152A(4):836-845. Pubmedid: 20358592.

  • Pal T, Keefe D, Sun P, Narod SA. Fertility in women with BRCA mutations: a case-control study. Fertil Steril. 2010 Apr;93(6):1805-1808. Pubmedid: 19200971.

  • Permuth-Wey J, Boulware D, Valkov N, Livingston S, Nicosia S, Lee JH, Sutphen R, Schildkraut J, Narod S, Parker A, Coppola D, Sellers T, Pal T. Sampling strategies for tissue microarrays to evaluate biomarkers in ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2009 Jan;18(1):28-34. Pubmedid: 19124477. Pmcid: PMC2664171.

  • Pal T, Permuth-Wey J, Kumar A, Sellers TA. Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clin Cancer Res. 2008 Nov;14(21):6847-6854. Pubmedid: 18980979. Pmcid: PMC2655731.

  • Pal T, Vadaparampil S, Betts J, Miree C, Li S, Narod SA. BRCA1/2 in high-risk African American women with breast cancer: providing genetic testing through various recruitment strategies. Genet Test. 2008 Sep;12(3):401-407. Pubmedid: 18752448.

  • Pal T, Permuth-Wey J, Sellers TA. A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer. Cancer. 2008 Aug;113(4):733-742. Pubmedid: 18543306. Pmcid: PMC2644411.

  • Chu W, Fyles A, Sellers E, McCready D, Murphy J, Pal T, Narod S. Association between CYP3A4 genotype and risk of endometrial cancer following tamoxifen use. Carcinogenesis. 2007 Oct;28(10):2139-2142. Pubmedid: 17434921.

  • Pal T, Napierala D, Becker T, Loscalzo M, Baldridge D, Lee B, Sutphen R. The presence of germ line mosaicism in cleidocranial dysplasia. Clin Genet. 2007 Jun;71(6):589-591. Pubmedid: 17539909.

  • Pal T, Permuth-Wey J, Kapoor R, Cantor A, Sutphen R. Improved survival in BRCA2 carriers with ovarian cancer. Familial Cancer. 2007;6(1):113-119. Pubmedid: 17160431. Pmcid: PMC3303221.

  • Beiner M, Rosen B, Fyles A, Harley I, Pal T, Siminovitch K, Zhang S, Sun P, Narod S. Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2. Cancer Epidemiol Biomarkers Prev. 2006 Aug;15(9):1636-1640. Pubmedid: 16985024.

  • Pal T, Permuth-Wey J, Betts JA, Krischer JP, Fiorica J, Arango H, LaPolla J, Hoffman M, Martino MA, Wakeley K, Wilbanks G, Nicosia S, Cantor A, Sutphen R. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer. 2005 Dec;104(12):2807-2816. Pubmedid: 16284991.

  • Sellers T, Schildkraut J, Pankratz V, Vierkant R, Fredericksen Z, Olson J, Cunningham J, Taylor W, Liebow M, McPherson C, Hartmann L, Pal T, Adjei A. Estrogen bioactivation, genetic polymorphisms, and ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2005 Nov;14(11Pt1):2536-2543. Pubmedid: 16284375.

  • Pal T, Permuth-Wey J, Holtje T, Sutphen R. BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. Cancer Epidemiol Biomarkers Prev. 2004 Nov;13(11 Pt 1):1794-1799. Pubmedid: 15533909.

  • Pal T, Sutphen R, Sellers T. Mismatch repair gene expression defects contribute to microsatellite instability in ovarian carcinoma. Cancer. 2004;100(11):2485-2486. Pubmedid: 15160358.

  • Thiffault I, Hamel N, Pal T, McVety S, Marcus V, Farber D, Cowie S, Deschenes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters A, MacNamara E, Sart D, Chong G, Foulkes W. Germline truncating muations in both MSH2 and BRCA2 in a single kindred. Br J Cancer. 2004;90(2):483-491. Pubmedid: 14735197.

  • Elliot A, Graham J, Curry C, Pal T, Rimoin D, Lachman R. Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Am J Med Genet. 2002;113(4):351-361. Pubmedid: 12457407.

  • Elit L, Pal T, Goshen R, Jernstrom H, Ackerman I, Fyles A, Carey M, Mitchell M, Aube J, Narod S. Familial and hormonal risk factors for papillary serous uterine cancer. Eur J Gynaecol Oncol. 2002;23(3):187-190. Pubmedid: 12094951.

  • Bevan S, Pal T, Greenberg C, Green H, Wixey J, Bignell G, Narod S, Foulkes W, Stratton M, Houlston R. A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: confirmation of linkage to TCO1. J Clin Endocrinol Metab. 2001;86(8):3701-3704. Pubmedid: 11502798.

  • Pal T, Liede A, Mitchell M, Calender A, Narod S. Intestinal carcinoid tumours in a father and daughter. Can J Gastroenterol. 2001;15(6):405-409. Pubmedid: 11429670.

  • Pal T, Hamel N, Vesprini D, Sanders K, Mitchell M, Quercia N, Ng C, Murray A, Foulkes W, Narod S. Double primary cancers of the breast and thyroid in women: molecular analysis and genetic implications. Familial Cancer. 2001;1(1):17-24. Pubmedid: 14574011.

  • Pal T, Vogl F, Chappuis P, Tsang R, Brierley J, Renard H, Sanders K, Kantemiroff T, Bagha S, Goldgar D, Narod S, Foulkes W. Increased risk for nonmedullary thyroid cancer in the first degree relatives of prevalent cases of nonmedullary thyroid cancer: a hospital-based study. J Clin Endocrinol Metab. 2001;86(11):5307-5312. Pubmedid: 11701697.

  • Liede A, Pal T, Mitchell M, Narod S. Delineation of a new syndrome: clustering of pyloric stenosis, endometriosis, and breast cancer in two families. J Med Genet. 2000;37(10):794-796. Pubmedid: 11183186.

  • Goshen R, Chu W, Elit L, Pal T, Hakimi J, Ackerman I, Fyles A, Mitchell M, Narod S. Is uterine papillary serous adenocarcinoma a manifestation of the hereditary breast-ovarian cancer syndrome?. Gynecol Oncol. 2000;79(3):477-481. Pubmedid: 11104623.

  • Charames G, Millar A, Pal T, Narod S, Bapat B. Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?. Hum Genet. 2000;107(6):623-629. Pubmedid: 11153917.

  • Millar A, Pal T, Madlensky L, Sherman C, Temple L, Mitri A, Cheng H, Marcus V, Gallinger S, Bapat B, Narod S. Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. Hum Mol Genet. 1999;8(5):823-829. Pubmedid: 10196371.

  • Pal T, Flanders T, Mitchell-Lehman M, MacMillan A, Brunet J, Narod S, Foulkes W. Genetic implications of double primary cancers of the colorectum and endometrium. J Med Genet. 1998;35(12):978-984. Pubmedid: 9863592.

The research interests of Dr. Pal have consistently focused on epidemiologically-based studies focused on inherited cancer predisposition, including underserved populations. She has been involved in several educational and outreach activities pertaining to inherited cancer risk at the patient and provider level.

Her research has spanned the cancer prevention and control continuum, with evaluations of genetic etiology, cancer risks and outcomes, including efforts to investigate the etiology of breast cancer in high risk Black women. She has also investigated the delivery of genetic services, including issues related to identification and access to genetic services, as well as factors associated with quality of care. These efforts include the development of the Inherited Cancer Registry (ICARE) Initiative at Moffitt through which she has partnered with community practitioners to evaluate cancer risk management practices at both the patient and provider level. This type of partnership has focused on increasing the reach of genetics professionals and through leveraging their expertise for challenging cases yet enabling patients to remain in their community, allowing them better access to resources for long-term follow-up care. In fact, this initiative has resulted in the creation of an infrastructure to support research, education, and outreach focused on genetic risk assessment for inherited cancer predisposition. Moreover, education and outreach about inherited cancer predisposition is provided by the ICARE study team through development of a network of healthcare providers (called ‘ICARE Partners’) who offer genetic testing services across the state and beyond, with the overarching goal of enhancing the provision of genetic services. Free resources provided to ICARE partners include access to: 1) a bi-monthly virtual case conferences during which interesting and challenging cases are presented, 2) a bi-annual newsletter which includes recent clinical and research updates, and 3) ICARE-based experts for general inquiries. As an offshoot of our educational and outreach efforts, ICARE Partners refer high risk patients to the research registry to provide the research link for patients interested in participating in studies about inherited cancers. This referral mechanism, in turn, has contributed to the tremendous growth of the registry since initiation of the effort in 2010 with over 1400 individuals recruited to date, including 900 individuals with BRCA mutations (more information about ICARE is available at inheritedcancer.net).

TOOLS:   Font Size small font resizer separator font resizer separator big font resizer
 |  Site Map  |  Privacy Policy  |  Terms and Conditions