Publications by authors named "Isabel Spier"

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Hereditary diffuse gastric cancer spectrum associated with germline loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.
Silvana Lobo, Alexandre Dias, Ana Maria Pedro, Marta Ferreira, André Pinto-Oliveira, Isabel Spier

Gut· November 2025

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BAPoma, a rare nevus, as the key to a diagnosis of BAP1-associated tumor predisposition syndrome.
Lara Racz, Sandra Pasternack-Ziach, Isabel Spier, Stephan Forchhammer, Claudia Rehkämper

J Dtsch Dermatol Ges· October 2025

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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Isabel Spier

Nat Genet· July 2025

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Colonoscopy findings in CDH1 carriers from a multicenter international study.
Arjun Chatterjee, Robert Hüneburg, Qijun Yang, Shannon Morrison, Anna Bettzüge, Isabel Spier

Fam Cancer· May 2025

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Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.
Alexandra A Baumann, Lisanne I Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Isabel Spier

NPJ Genom Med· April 2025

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A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.
Shira Shur, Anna K Sommer, Andrew Latchford, Isabel Spier, Lior H Katz

Fam Cancer· April 2025

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MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.
Lea L Friker, Thomas Perwein, Andreas Waha, Evelyn Dörner, Rebecca Klein, Isabel Spier

Acta Neuropathol· February 2025

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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Isabel Spier

Am J Hum Genet· November 2024

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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Isabel Spier

Nat Genet· August 2024

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Systematic large-scale application of ClinGen InSiGHT -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Isabel Spier

medRxiv· May 2024

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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Isabel Spier, Xiaoyu Yin, Marcy Richardson, Marta Pineda, Andreas Laner

Genet Med· February 2024

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Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.
Nuria Dueñas, Hannah Klinkhammer, Nuria Bonifaci, Isabel Spier, Andreas Mayr

J Med Genet· November 2023

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MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome.
Mariann Unhjem Wiik, Mia Negline, Vidar Beisvåg, Matthew Clapham, Elizabeth Holliday, Isabel Spier

Sci Rep· November 2023

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Germline mutations in could be associated with serrated polyposis syndrome.
Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz, Cristina Herrera-Pariente, Leticia Moreira, Isabel Spier

J Med Genet· June 2023

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Wnt genes in colonic polyposis predisposition.
Isabel Quintana, Mariona Terradas, Pilar Mur, Iris B A W Te Paske, Sophia Peters, Isabel Spier

Genes Dis· May 2023

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Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency.
Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Isabel Spier

Gastroenterology· April 2023

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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Emadeldin Hassanin, Isabel Spier, Dheeraj R Bobbili, Rana Aldisi, Hannah Klinkhammer

BMC Med Genomics· March 2023

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Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
Linda A J Hendricks, Nicoline Hoogerbrugge, Arjen R Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Isabel Spier

J Natl Cancer Inst· January 2023

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Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Isabel Spier

Lancet Oncol· January 2023

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First estimates of diffuse gastric cancer risks for carriers of germline pathogenic variants.
Marie Coudert, Youenn Drouet, Hélène Delhomelle, Magali Svrcek, Patrick R Benusiglio, Isabel Spier

J Med Genet· December 2022

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Genetic alterations of TP53 and OTX2 indicate increased risk of relapse in WNT medulloblastomas.
Tobias Goschzik, Martin Mynarek, Evelyn Doerner, Alina Schenk, Isabel Spier

Acta Neuropathol· December 2022

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Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Linda A J Hendricks, Nicoline Hoogerbrugge, Hanka Venselaar, Stefan Aretz, Isabel Spier

Eur J Med Genet· December 2022

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Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.
Linda A J Hendricks, Janneke Schuurs-Hoeijmakers, Isabel Spier, Maaike L Haadsma, Astrid Eijkelenboom

Eur J Med Genet· July 2022

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Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD.
Anna K Sommer, Iris B A W Te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Isabel Spier

Eur J Med Genet· May 2022

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Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.
Christian Peter Kratz, Verena Steinke-Lange, Isabel Spier, Stefan Aretz, Evelin Schröck

Geburtshilfe Frauenheilkd· January 2022

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