Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Autor: Richard Gallon, Rachel Phelps, Christine Hayes, Laurence Brugieres, Léa Guerrini-Rousseau, Chrystelle Colas, Martine Muleris, Neil A.J. Ryan, D. Gareth Evans, Hannah Grice, Emily Jessop, Annabel Kunzemann-Martinez, Lilla Marshall, Esther Schamschula, Klaus Oberhuber, Amedeo A. Azizi, Hagit Baris Feldman, Andreas Beilken, Nina Brauer, Triantafyllia Brozou, Karin Dahan, Ugur Demirsoy, Benoît Florkin, William Foulkes, Danuta Januszkiewicz-Lewandowska, Kristi J. Jones, Christian P. Kratz, Stephan Lobitz, Julia Meade, Michaela Nathrath, Hans-Jürgen Pander, Claudia Perne, Iman Ragab, Tim Ripperger, Thorsten Rosenbaum, Daniel Rueda, Tomasz Sarosiek, Astrid Sehested, Isabel Spier, Manon Suerink, Stefanie-Yvonne Zimmermann, Johannes Zschocke, Gillian M. Borthwick, Katharina Wimmer, John Burn, Michael S. Jackson, Mauro Santibanez-Koref

Publikováno v: Gallon, R, Phelps, R, Hayes, C, Brugieres, L, Guerrini-Rousseau, L, Colas, C, Muleris, M, Ryan, N A J, Evans, D G, Grice, H, Jessop, E, Kunzemann-Martinez, A, Marshall, L, Schamschula, E, Oberhuber, K, Azizi, A A, Baris Feldman, H, Beilken, A, Brauer, N, Brozou, T, Dahan, K, Demirsoy, U, Florkin, B, Foulkes, W, Januszkiewicz-Lewandowska, D, Jones, K J, Kratz, C P, Lobitz, S, Meade, J, Nathrath, M, Pander, H-J, Perne, C, Ragab, I, Ripperger, T, Rosenbaum, T, Rueda, D, Sarosiek, T, Sehested, A, Spier, I, Suerink, M, Zimmermann, S-Y, Zschocke, J, Borthwick, G M, Wimmer, K, Burn, J, Jackson, M S & Santibanez-Koref, M 2023, ' Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency ', Gastroenterology, vol. 164, no. 4, pp. 579-592.e8 . https://doi.org/10.1053/j.gastro.2022.12.017

BACKGROUND & AIMS: Constitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline mismatch repair variants. Constitutional microsatellite instability (cMSI) is a CMMRD diagnostic hall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2f9c31dd5604b2681e0b38c8e5c76ee
https://www.pure.ed.ac.uk/ws/files/342899380/1_s2.0_S0016508522014445_main.pdf

Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

Autor: Julia Meade, Katharina Wimmer, Maria Anna Misiakou, Birgitte Bertelsen, Hendrik Gottschling, Johannes Zschocke, Astrid Sehested, David Scheie, Helga Fibiger Munch-Petersen, Richard Gallon, Matthias Schmuth, Olga Østrup, Linea Melchior, Elena Kessler, Reetesh K. Pai, Tomasz Sarosiek

Publikováno v: Sehested, A, Meade, J, Scheie, D, Østrup, O, Bertelsen, B, Misiakou, M A, Sarosiek, T, Kessler, E, Melchior, L C, Munch-Petersen, H F, Pai, R K, Schmuth, M, Gottschling, H, Zschocke, J, Gallon, R & Wimmer, K 2022, ' Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency ', Human Mutation, vol. 43, no. 1, pp. 85-96 . https://doi.org/10.1002/humu.24299

Heterozygous POLE or POLD1 germline pathogenic variants (PVs) cause polymerase proofreading associated polyposis (PPAP), a constitutional polymerase proofreading deficiency that typically presents with colorectal adenomas and carcinomas in adulthood.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57482f54a649d551d08ffbea34e0a5f6
https://doi.org/10.1002/humu.24299

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Autor: Julia Meade, Stephanie Greene, Hussam Abou-Al-Shaar, Michael Mendelson, Hanna Algattas, Georgianne L. Arnold, James Felker

Publikováno v: Cancer Genetics. 244:36-39

Familial cerebral cavernous malformation syndromes are most commonly caused by mutations in one of three genes. The overlap of these genetic malformations with other acquired neoplastic lesions and congenital malformations is still under investigatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::01237267799532bf055df13daadbc41d
https://doi.org/10.1016/j.cancergen.2020.04.075

Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients

Autor: Kelly M. Bailey, Robin Grubs, Elena Kessler, Rosemarie E. Venier, Julia Meade

Genomic medicine and the use of genetic information in pediatric oncology has provided insight on the molecular underpinnings of childhood cancers and has demonstrated that cancer predisposition syndromes (CPS) are underdiagnosed. Diagnosis of a CPS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3f7a8c8bc22b19f5b7b29a29c6ef9d
https://doi.org/10.22541/au.159415223.38011765

A germline BARD1 mutation in a patient with Ewing Sarcoma: Implications for familial testing and counseling

Autor: Rosemarie E. Venier, Kelly M. Bailey, Elena Kessler, Jean M. Tersak, Richard L. McGough, Sarangarajan Ranganathan, Julia Meade, Lisa M. Maurer, Marcus M. Malek, Kurt R. Weiss

Publikováno v: Pediatric Blood & Cancer. 66

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd086c6aeb58ec86f35056fc535e1a1b
https://doi.org/10.1002/pbc.27824