A validated highly sensitive microsatellite instability assay accurately identifies germline biallelic PMS2 mutation carriers among Constitutional Mismatch Repair Deficiency individuals

被引：0

作者：

Marin, Fatima ^{[1
]}

Canet-Hermida, Julia ^{[1
]}

Bianchi, Vanessa ^{[2
]}

Chung, Jiil ^{[3
]}

Wimmer, Katharina ^{[4
]}

Foulkes, William ^{[5
,6
]}

Perez-Alonso, Vanesa ^{[7
]}

Dominguez-Pinilla, Nerea ^{[7
]}

Vazquez, Felisa ^{[8
]}

Lopez, Estela Carrasco ^{[9
]}

Sabado, Constantino ^{[10
]}

Ignacio Gonzalez-Granado, Luis ^{[11
]}

Tabori, Uri ^{[12
]}

Capella, Gabriel ^{[13
]}

Pineda, Marta ^{[13
]}

机构：

[1] CIBERONC, Inst Invest Biomed Bellvitge IDIBELL, Hereditary Canc Program, Lhospitalet De Llobregat, Spain

[2] Hosp Sick Children, Arthur & Sonia Labatt Brain Tumour Res Ctr, Toronto, ON, Canada

[3] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada

[4] Med Univ Innsbruck, Div Human Genet, Innsbruck, Austria

[5] McGill Univ, Dept Oncol, Program Canc Genet, Montreal, PQ, Canada

[6] McGill Univ, Dept HumGenet, Program Canc Genet, Montreal, PQ, Canada

[7] Hosp Univ Doce Octubre, Pediat & Haematooncol Serv, Madrid, Spain

[8] Hosp Infantil Univ Nino Jesus, Pediat Oncohaematol Serv, Madrid, Spain

[9] Vall Hebron Hosp Univ, Hereditary Canc Genet Grp, Barcelona, Spain

[10] Vall Hebron Hosp Univ, Pediat Oncohaematol Serv, Barcelona, Spain

[11] Hosp Univ Doce Octubre, Res Inst I 12, Primary Immunodeficiency Unit, Paediat, Madrid, Spain

[12] Hosp Sick Children, Div Hematol Oncol, Toronto, ON, Canada

[13] CIBERONC, Hereditary Canc Program, Catalan Inst Oncol ICO, Inst Invest Biomed Bellvitge IDIBELL, Lhospitalet De Llobregat, Spain

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P13.029.A

引用

页码：553 / 554

页数：2

共 18 条

[1] A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency
Marin, Fatima
Canet-Hermida, Julia
Bianchi, Vanessa
Chung, Jiil
Wimmer, Katharina
Foulkes, William
Perez-Alonso, Vanesa
Dominguez-Pinilla, Nerea
Sabado, Constantino
Vazquez-Gomez, Felisa
Molines, Antonio
Fioravantti, Victoria
Carrasco, Estela
Stengs, Lucie
Edwards, Melissa
Negm, Logine
Das, Anirban
Aronson, Melyssa
Pastor, Angela
Rueda, Daniel
Gonzalez-Granado, Luis Ignacio
Tabori, Uri
Capella, Gabriel
Pineda, Marta
CLINICAL CHEMISTRY, 2024, 70 (05) : 737 - 746
[2] Highly-sensitive approach for characterizing microsatellite instability in normal tissue and tumors from biallelic germline mismatch repair mutation carriers
Marin, Fatima
Canet, Julia
Perez-Alonso, Vanesa
Tapial, Sandra
Rey, Iciar
Carrizo-Mijarra, Nuria
Rodriguez-Gil, Yolanda
Capella, Gabriel
Ignacio Gonzalez-Granado, Luis
Pineda, Marta
Rueda, Daniel
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 384 - 385
[3] Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations
Leenen, C. H. M.
Geurts-Giele, W. R. R.
Dubbink, H. J.
Reddingius, R.
van den Ouweland, A. M.
Tops, C. M. J.
van de Klift, H. M.
Kuipers, E. J.
van Leerdam, M. E.
Dinjens, W. N. M.
Wagner, A.
CLINICAL GENETICS, 2011, 80 (06) : 558 - 565
[4] A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
Li, Lili
Hamel, Nancy
Baker, Kristi
McGuffin, Michael J.
Couillard, Martin
Gologan, Adrian
Marcus, Victoria A.
Chodirker, Bernard
Chudley, Albert
Stefanovici, Camelia
Durandy, Anne
Hegele, Robert A.
Feng, Bing-Jian
Goldgar, David E.
Zhu, Jun
De Rosa, Marina
Gruber, Stephen B.
Wimmer, Katharina
Young, Barbara
Chong, George
Tischkowitz, Marc D.
Foulkes, William D.
JOURNAL OF MEDICAL GENETICS, 2015, 52 (05) : 348 - 352
[5] COMPOUND HETEROZYGOUS MUTATION OF THE PMS2 GENE IN AN INFANT WITH CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY AND MEDULLOBLASTOMA
Lukas, Claudia
Crenshaw, Melissa
Gonzalez-Gomez, Ignacio
Potthast, Joseph
Shimony, Nir
Jallo, George
Stapleton, Stacie
NEURO-ONCOLOGY, 2018, 20 : 127 - 127
[6] BRAIN TUMORS IN CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME: FOUR NEW FAMILIES WITH BIALLELIC PMS2 MUTATIONS
Wimmer, K.
Slavc, I.
Goldberg, Y.
Chmara, M.
Attarbashi, A.
Heinrich, M.
Peyrl, A.
Wernstedt, A.
Strasser, U.
Legius, E.
NEURO-ONCOLOGY, 2010, 12 (06) : II34 - II35
[7] High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
Gonzalez-Acosta, Maribel
Marin, Fatima
Puliafito, Benjamin
Bonifaci, Nuria
Fernandez, Anna
Navarro, Matilde
Salvador, Hector
Balaguer, Francesc
Iglesias, Silvia
Velasco, Angela
Garces, Elia Grau
Moreno, Victor
Gonzalez-Granado, Luis Ignacio
Guerra-Garcia, Pilar
Ayala, Rosa
Florkin, Benoit
Kratz, Christian
Ripperger, Tim
Rosenbaum, Thorsten
Januszkiewicz-Lewandowska, Danuta
Azizi, Amedeo A.
Ragab, Iman
Nathrath, Michaela
Pander, Hans-Juergen
Lobitz, Stephan
Suerink, Manon
Dahan, Karin
Imschweiler, Thomas
Demirsoy, Ugur
Brunet, Joan
Lazaro, Conxi
Rueda, Daniel
Wimmer, Katharina
Capella, Gabriel
Pineda, Marta
JOURNAL OF MEDICAL GENETICS, 2020, 57 (04) : 269 - 273
[8] Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature
Cheyuo, Cletus
Radwan, Walid
Ahn, Janice
Gyure, Kymberly
Qaiser, Rabia
Tomboc, Patrick
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2017, 39 (07) : E381 - E387
[9] Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
Ramchander, N. C.
Ryan, N. A. J.
Crosbie, E. J.
Evans, D. G.
BMC MEDICAL GENETICS, 2017, 18
[10] Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome
Shahid Mahmood Baig
Ambrin Fatima
Muhammad Tariq
Tahir Naeem Khan
Zafar Ali
Mohammad Faheem
Humera Mahmood
Patrick Killela
Matthew Waitkus
Yiping He
Fangping Zhao
Sizhen Wang
Yuchen Jiao
Hai Yan
Familial Cancer, 2019, 18 : 261 - 265

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