Ghent University Academic Bibliography

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Your filters: cql: author="Machackova, Eva" or (type exact bookEditor and editor="Machackova, Eva")

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ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Achatz, Christine Ambrosone, Paraskevi Apostolou, Banu K. Arun, et al.

(2023) CLINICAL CANCER RESEARCH. 29(16). p.3037-3050
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Eileen O. Dareng, Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K. H. Aben, Muriel A. Adank, Simona Agata, Irene L. Andrulis, Hoda Anton-Culver, et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. 30(3). p.349-362
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Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants : results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Valentina Silvestri, Goska Leslie, Daniel R. Barnes, Bjarni A. Agnarsson, Kristiina Aittomäki, Elisa Alducci, Irene L. Andrulis, Rosa B. Barkardottir, Alicia Barroso, Daniel Barrowdale, et al.

(2020) JAMA ONCOLOGY. 6(8). p.1218-1230
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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

Annelot Baert (UGent) , Eva Machackova, Ilse Coene (UGent) , Carol Cremin, Kristin Turner, Cheryl Portigal-Todd, Marie Jill Asrat, Jennifer Nuk, Allison Mindlin, Sean Young, et al.

(2018) HUMAN MUTATION. 39(4). p.515-526
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I. Olopade, Angela R Solano, Soo-Hwang Teo, et al.

(2018) HUMAN MUTATION. 39(5). p.593-620
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BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

Hermela Shimelis, Romy LS Mesman, Catharina Von Nicolai, Asa Ehlen, Lucia Guidugli, Charlotte Martin, Fabienne MGR Calléja, Huong Meeks, Emily Hallberg, Jamie Hinton, et al.

(2017) CANCER RESEARCH. 77(11). p.2789-2799
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Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Valentina Silvestri, Daniel Barrowdale, Anna Marie Mulligan, Susan L Neuhausen, Stephen Fox, Beth Y Karlan, Gillian Mitchell, Paul James, Darcy L Thull, Kristin K Zorn, et al.

(2016) BREAST CANCER RESEARCH. 18.
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Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish patients with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Kathleen Claes (UGent) , Eva Machackova, Michel De Vos, Geert Mortier (UGent) , Anne De Paepe (UGent) and Ludwine Messiaen

(1999) HUMAN MUTATION. 13(3). p.256-256
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Improved conditions for PTT-analysis of the BRCA1, BRCA2, NF1 and APC genes

Kathleen Claes (UGent) , Eva Machackova, Tom Callens (UGent) , Greta Van der Cruyssen (UGent) and Ludwine Messiaen (UGent)

(1998) TECHNICAL TIPS ONLINE. 3. p.90-93

Academic Bibliography

ENIGMA CHEK2gether Project : a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants : results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish patients with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease

Improved conditions for PTT-analysis of the BRCA1, BRCA2, NF1 and APC genes

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