Ghent University Academic Bibliography

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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Denise G. O’Mahony, Susan J. Ramus, Melissa C. Southey, Nicola S. Meagher, Andreas Hadjisavvas, Esther M. John, Ute Hamann, Evgeny N. Imyanitov, Irene L. Andrulis, Priyanka Sharma, et al.

(2023) BRITISH JOURNAL OF CANCER. 128(12). p.2283-2294
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Christopher Hakkaart, John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes, Bridget A. Robinson, Peter D. Mace, Kristiina Aittomäki, Irene L. Andrulis, et al.

(2022) COMMUNICATIONS BIOLOGY. 5(1).
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Breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers using polygenic risk scores

Daniel R Barnes, Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Xin Yang, Julian Adlard, Bjarni A Agnarsson, Munaza Ahmed, Kristiina Aittomäki, et al.

(2022) JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 114(1). p.109-122
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The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Inge M. M. Lakeman, Alexandra J. van den Broek, Julien A. M. Vos, Daniel R. Barnes, Julian Adlard, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Banu K. Arun, Judith Balmana, et al.

(2021) GENETICS IN MEDICINE. 23(9). p.1726-1737
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Juliette Coignard, Michael Lush, Jonathan Beesley, Tracy A. O'Mara, Joe Dennis, Jonathan P. Tyrer, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, et al.

(2021) NATURE COMMUNICATIONS. 12(1).
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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomäki, et al.

(2020) GENETICS IN MEDICINE. 22(10). p.1653-1666
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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Haoyu Zhang, Thomas U. Ahearn, Julie Lecarpentier, Daniel Barnes, Jonathan Beesley, Guanghao Qi, Xia Jiang, Tracy A. O’Mara, Ni Zhao, Manjeet K. Bolla, et al.

(2020) NATURE GENETICS. 52(6). p.572-581
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Laura Fachal, Hugues Aschard, Jonathan Beesley, Daniel R. Barnes, Jamie Allen, Siddhartha Kar, Karen A. Pooley, Joe Dennis, Kyriaki Michailidou, Constance Turman, et al.

(2020) NATURE GENETICS. 52(1).
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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Helian Feng, Alexander Gusev, Bogdan Pasaniuc, Lang Wu, Jirong Long, Zomoroda Abu-full, Kristiina Aittomaki, Irene L. Andrulis, Hoda Anton-Culver, Antonis C. Antoniou, et al.

(2020) GENETIC EPIDEMIOLOGY. 44(5). p.442-468
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Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Vivek L. Patel, Evan L. Busch, Tara M. Friebel, Angel Cronin, Goska Leslie, Lesley McGuffog, Julian Adlard, Simona Agata, Bjarni A. Agnarsson, Munaza Ahmed, et al.

(2020) CANCER RESEARCH. 80(3). p.624-638
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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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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Frank Qian, Matti A Rookus, Goska Leslie, Harvey A Risch, Mark H Greene, Cora M Aalfs, Muriel A Adank, Julian Adlard, Bjarni A Agnarsson, Munaza Ahmed, et al.

(2019) BRITISH JOURNAL OF CANCER. 121(2). p.180-192
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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Manuel A Ferreira, Eric R Gamazon, Fares Al-Ejeh, Kristiina Aittomaki, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Volker Arndt, Kristan J Aronson, Banu K Arun, et al.

(2019) NATURE COMMUNICATIONS. 10.
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Height and body mass index as modifiers of breast cancer risk in BRCA1/2 mutation carriers : a Mendelian randomization study

Frank Qian, Shengfeng Wang, Jonathan Mitchell, Lesley McGuffog, Daniel Barrowdale, Goska Leslie, Jan C Oosterwijk, Wendy K Chung, D Gareth Evans, Christoph Engel, et al.

(2019) JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 111(4). p.350-364
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Shared heritability and functional enrichment across six solid cancers

Xia Jiang, Hilary K Finucane, Fredrick R Schumacher, Stephanie L Schmit, Jonathan P Tyrer, Younghun Han, Kyriaki Michailidou, Corina Lesseur, Karoline B Kuchenbaecker, Joe Dennis, et al.

(2019) NATURE COMMUNICATIONS. 10.
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Roser Pujol, Johanna I Kiiski, Taru A Muranen, Daniel R Barnes, Joe Dennis, et al.

(2019) NPJ BREAST CANCER. 5.
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The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Setareh Moghadasi, Huong D Meeks, Maaike PG Vreeswijk, Linda AM Janssen, Ake Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig, et al.

(2018) JOURNAL OF MEDICAL GENETICS. 55(1). p.15-20
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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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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Leslie J Burke, Jan Sevcik, Gaetana Gambino, Emma Tudini, Eliseos J Mucaki, Ben C Shirley, Phillip Whiley, Michael T Parsons, Kim De Leeneer (UGent) , Sara Gutiérrez-Enríquez, et al.

(2018) HUMAN MUTATION. 39(12). p.2025-2039
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A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

Yingchang Lu, Alicia Beeghly-Fadiel, Lang Wu, Xingyi Guo, Bingshan Li, Joellen M Schildkraut, Hae Kyung Im, Yian A Chen, Jennifer B Permuth, Brett M Reid, et al.

(2018) CANCER RESEARCH. 78(18). p.5419-5430
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Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Catherine M Phelan, Karoline B Kuchenbaecker, Jonathan P Tyrer, Siddhartha P Kar, Kate Lawrenson, Stacey J Winham, Joe Dennis, Ailith Pirie, Marjorie J Riggan, Ganna Chornokur, et al.

(2017) NATURE GENETICS. 49(5). p.680-691
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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, et al.

(2017) NATURE GENETICS. 49(12). p.1767-1778
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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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Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Karoline B Kuchenbaecker, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Penny Soucy, Sue Healey, Joe Dennis, Michael Lush, Mark Robson, Amanda B Spurdle, et al.

(2017) JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 109(7).
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Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores

Julie Lecarpentier, Valentina Silvestri, Karoline B Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Penny Soucy, Goska Leslie, Piera Rizzolo, Anna Sara Navazio, et al.

(2017) JOURNAL OF CLINICAL ONCOLOGY. 35(20). p.2240-2250
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Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3

Yosr Hamdi, Penny Soucy, Karoline B. Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemacon, Julian Adlard, Kristiina Aittomaki, Irene L. Andrulis, Adalgeir Arason, et al.

(2017) BREAST CANCER RESEARCH AND TREATMENT. 161(1). p.117-134
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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

Alison M Dunning, Kyriaki Michailidou, Karoline B Kuchenbaecker, Deborah Thompson, Juliet D French, Jonathan Beesley, Catherine S Healey, Siddhartha Kar, Karen A Pooley, Elena Lopez-Knowles, et al.

(2016) NATURE GENETICS. 48(4). p.374-386
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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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BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

Huong D Meeks, Honglin Song, Kyriaki Michailidou, Manjeet K Bolla, Joe Dennis, Qin Wang, Daniel Barrowdale, Debra Frost, Lesley McGuffog, Steve Ellis, et al.

(2016) JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 108(2).
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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, et al.

(2016) JOURNAL OF MEDICAL GENETICS. 53(12). p.800-811
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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Ignacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, Xianshu Wang, Daniel Barrowdale, Gorka Ruiz de Garibay, Pablo Librado, Alejandro Sánchez-Gracia, Julio Rozas, Núria Bonifaci, et al.

(2015) PLOS ONE. 10(4).
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An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Sophie Blein, Claire Bardel, Vincent Danjean, Lesley McGuffog, Sue Healey, Daniel Barrowdale, Andrew Lee, Joe Dennis, Karoline B Kuchenbaecker, Penny Soucy, et al.

(2015) BREAST CANCER RESEARCH. 17.
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Karoline B Kuchenbaecker, Susan L Neuhausen, Mark Robson, Daniel Barrowdale, Lesley McGuffog, Anna Marie Mulligan, Irene L Andrulis, Amanda B Spurdle, Marjanka K Schmidt, Rita K Schmutzler, et al.

(2014) BREAST CANCER RESEARCH. 16.
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Fergus J Couch, Xianshu Wang, Lesley McGuffog, Andrew Lee, Curtis Olswold, Karoline B Kuchenbaecker, Penny Soucy, Zachary Fredericksen, Daniel Barrowdale, Joe Dennis, et al.

(2013) PLOS GENETICS. 9(3).

Academic Bibliography

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers using polygenic risk scores

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

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)

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Height and body mass index as modifiers of breast cancer risk in BRCA1/2 mutation carriers : a Mendelian randomization study

Shared heritability and functional enrichment across six solid cancers

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

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

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

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

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

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