Publications by authors named "Marc D Tischkowitz"

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Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).
Isaac Wade, Leora Witkowski, Afrida Ahmed, Charlie F Rowlands, Susana Banerjee, Marc D Tischkowitz

Genet Med· January 2025

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Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.
Mae A Goldgraben, Eleanor Fewings, Alexey Larionov, James Scarth, James Redman, Marc D Tischkowitz

Pediatr Blood Cancer· September 2020

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Penetrance estimates for , (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?
D Gareth Evans, Emma Woodward, Elaine F Harkness, Anthony Howell, Inga Plaskocinska, Marc D Tischkowitz

J Med Genet· July 2018

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
James Whitworth, Philip S Smith, Jose-Ezequiel Martin, Hannah West, Andrea Luchetti, Marc D Tischkowitz

Am J Hum Genet· July 2018

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Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
James Whitworth, Anne-Bine Skytte, Lone Sunde, Derek H Lim, Mark J Arends, Marc D Tischkowitz

JAMA Oncol· March 2016

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A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Lili Li, Nancy Hamel, Kristi Baker, Michael J McGuffin, Martin Couillard, Marc D Tischkowitz

J Med Genet· May 2015

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Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.
Leora Witkowski, Emilie Lalonde, Jian Zhang, Steffen Albrecht, Nancy Hamel, Marc D Tischkowitz

J Pathol· September 2013

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Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.
Nelly Sabbaghian, Amin Bahubeshi, Andrew Y Shuen, Peter A Kanetsky, Marc D Tischkowitz

BMC Res Notes· April 2013

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Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Fergus J Couch, Mia M Gaudet, Antonis C Antoniou, Susan J Ramus, Karoline B Kuchenbaecker, Marc D Tischkowitz

Cancer Epidemiol Biomarkers Prev· April 2012

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Extending the phenotypes associated with DICER1 mutations.
William D Foulkes, Amin Bahubeshi, Nancy Hamel, Barbara Pasini, Sofia Asioli, Marc D Tischkowitz

Hum Mutat· December 2011

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Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
Thomas Rio Frio, Josée Lavoie, Nancy Hamel, Felipe C Geyer, Yaël B Kushner, Marc D Tischkowitz

N Engl J Med· December 2010

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Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.
Marc D Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Ayelet Borgida, Chaim Rosner

Gastroenterology· September 2009

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Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer.
Marc D Tischkowitz, Ahmet Yilmaz, Long Q Chen, Danielle M Karyadi, David Novak

Cancer Lett· October 2008

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Hereditary breast cancer: new genetic developments, new therapeutic avenues.
Philippe M Campeau, William D Foulkes, Marc D Tischkowitz

Hum Genet· August 2008

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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
Nathaniel H Robin, Clare J Taylor, Donna M McDonald-McGinn, Elaine H Zackai, Peter Bingham, Marc D Tischkowitz

Am J Med Genet A· November 2006

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The tale of a nail sign in chromosome 4q34 deletion syndrome.
Julie Vogt, Ethel Ryan, Marc D Tischkowitz, William Reardon, Louise A Brueton

Clin Dysmorphol· July 2006

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The basal phenotype of BRCA1-related breast cancer: past, present and future.
Marc D Tischkowitz, William D Foulkes

Cell Cycle· May 2006

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A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.
Elsa Callén, José A Casado, Marc D Tischkowitz, Juan A Bueren, Amadeu Creus

Blood· March 2005

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Medulloblastoma as a first presentation of fanconi anemia.
Marc D Tischkowitz, Julia Chisholm, Mark Gaze, Antony Michalski, Elisabeth M Rosser

J Pediatr Hematol Oncol· January 2004

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