MCM8 and MCM9 as germline predisposing genes for early-onset cancer, polyposis and primary ovarian insufficiency

被引:0
|
作者
Helderman, Noah [1 ]
Goldberg, Yael [2 ]
Castellvi-Bel, Sergi [3 ]
Nielsen, Maartje [1 ]
机构
[1] Leiden Univ Med Ctr LUMC, Clin Genet, Leiden, Netherlands
[2] Raphael Recanati Genet Inst, Petah Tiqwa, Israel
[3] Inst Invest Biomed August Pi & Sunyer IDIBAPS, Gastroenterol, Barcelona, Spain
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
P13.009.A
引用
收藏
页码:546 / 546
页数:1
相关论文
共 50 条
  • [1] MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency
    Desai, Swapna
    Wood-Trageser, Michelle
    Matic, Jelena
    Chipkin, Jaqueline
    Jiang, Huaiyang
    Bachelot, Anne
    Dulon, Jerome
    Sala, Cinzia
    Barbieri, Caterina
    Cocca, Massimiliano
    Toniolo, Daniela
    Touraine, Philippe
    Witchel, Selma
    Rajkovic, Aleksandar
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2017, 102 (02): : 576 - 582
  • [2] MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
    Yael Goldberg
    Ola Aleme
    Lilach Peled-Perets
    Sergi Castellvi-Bel
    Maartje Nielsen
    Stavit A. Shalev
    [J]. npj Genomic Medicine, 6
  • [3] MCM9 is associated with germline predisposition to early-onset cancer-clinical evidence
    Goldberg, Yael
    Aleme, Ola
    Peled-Perets, Lilach
    Castellvi-Bel, Sergi
    Nielsen, Maartje
    Shalev, Stavit A.
    [J]. NPJ GENOMIC MEDICINE, 2021, 6 (01)
  • [4] Molecular functions of MCM8 and MCM9 and their associated pathologies
    Helderman, Noah Cornelis
    Terlouw, Diantha
    Bonjoch, Laia
    Golubicki, Mariano
    Antelo, Marina
    Morreau, Hans
    van Wezel, Tom
    Castellvi-Bel, Sergi
    Goldberg, Yael
    Nielsen, Maartje
    [J]. ISCIENCE, 2023, 26 (06)
  • [5] GERMLINE BIALLELIC MUTATIONS IN MCM8 ARE ASSOCIATED WITH EARLY-ONSET LYNCHLIKE SYNDROME
    Golubicki, M.
    Bonjoch, L.
    Acuna-Ochoa, J. G.
    Diaz-Gay, M.
    Munoz, J.
    Cuatrecasas, M.
    Ocana, T.
    Iseas, S.
    Mendez, G.
    Cisterna, D.
    Schubert, S. A.
    Nielsen, M.
    van Wezel, T.
    Goldberg, Y.
    Pikarsky, E.
    Robbio, J.
    Roca, E.
    Castells, A.
    Balaguer, F.
    Antelo, M.
    Castellvi-Bel, S.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 530 - 531
  • [6] Germline biallelic mutations in MCM8 are associated with early-onset Lynch-like syndrome
    Golubicki, Mariano
    Bonjoch, Laia
    Acuna-Ochoa, Jose G.
    Diaz-Gay, Marcos
    Munoz, Jennifer
    Cuatrecasas, Miriam
    Ocana, Teresa
    Robbio, Juan
    Roca, Enrique L.
    Castells, Antoni
    Balaguer, Fracesc
    Antelo, Marina
    Castellvi-Bel, Sergi
    [J]. CANCER RESEARCH, 2020, 80 (16)
  • [7] Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome
    Golubicki, Mariano
    Bonjoch, Laia
    Acuna-Ochoa, Jose G.
    Diaz-Gay, Marcos
    Munoz, Jenifer
    Cuatrecasas, Miriam
    Ocana, Teresa
    Iseas, Soledad
    Mendez, Guillermo
    Cisterna, Daniel
    Schubert, Stephanie A.
    Nielsen, Maartje
    van Wezel, Tom
    Goldberg, Yael
    Pikarsky, Eli
    Robbio, Juan
    Roca, Enrique
    Castells, Antoni
    Balaguer, Francesc
    Antelo, Marina
    Castellvi-Bel, Sergi
    [J]. JCI INSIGHT, 2020, 5 (18)
  • [8] MCM9 mutation in a case of premature ovarian insufficiency with vitiligo
    Koprulu, Ozge
    Yalcintepe, Sinem
    [J]. HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 400 - 400
  • [9] A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency
    Fauchereau, F.
    Shalev, S.
    Chervinsky, E.
    Beck-Fruchter, R.
    Legois, B.
    Fellous, M.
    Caburet, S.
    Veitia, R. A.
    [J]. CLINICAL GENETICS, 2016, 89 (05) : 603 - 607
  • [10] Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure
    Goldberg, Yael
    Halpern, Naama
    Hubert, Ayala
    Adler, Samuel N.
    Cohen, Sherri
    Plesser-Duvdevani, Morasha
    Pappo, Orit
    Shaag, Avraham
    Meiner, Vardiella
    [J]. CANCER GENETICS, 2015, 208 (12) : 621 - 624