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journal article Open Access Aug 01, 2024

A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer

Jana Soukupova Barbora Stastna Madiha Kanwal Jan Hojny Petra Zemankova Marianna Borecka ORCID Leona Cerna Marta Cerna Monika Cerna Vaclava Curtisova Tatana Dolezalova Petra Duskova Lenka Foretova Ondrej Havranek Klara Horackova Milena Hovhannisyan Lucie Hruskova Stepan Chvojka Marketa Janatova Maria Janikova Sandra Jelinkova Pavel Just Marta Kalousova Petra Kleiblova Marcela Kosarova Monika Koudova Jan Král Michaela Krausova Vera Krutilkova Eva Machackova Katerina Matejkova Renata Michalovska Petr Nehasil Barbora Nemcova Jan Novotný ORCID Matous Palek Pavel Pesek Marketa Safarikova Ondrej Scheinost Drahomira Springer Lenka Stolarova ORCID Viktor Stránecký Ivan Subrt Spiros Tavandzis Eva Tureckova Kamila Vesela Zdenka Vlckova Michal Vocka ORCID Tomas Zima Libor Macurek ORCID Zdenek Kleibl ORCID
Cancer Medicine Vol. 13 No. 16 · Wiley
View at Publisher Save 10.1002/cam4.70103
Abstract
AbstractBackgroundMonoallelic germline pathogenic variants (GPVs) in five Fanconi anemia (FA) genes (BRCA1/FANCS, BRCA2/FANCD1, PALB2/FANCN, BRIP1/FANCJ, and RAD51C/FANCO) confer an increased risk of breast (BC) and/or ovarian (OC) cancer, but the role of GPVs in 17 other FA genes remains unclear.MethodsHere, we investigated the association of germline variants in FANCG/XRCC9 with BC and OC risk.ResultsThe frequency of truncating GPVs in FANCG did not differ between BC (20/10,204; 0.20%) and OC (8/2966; 0.27%) patients compared to controls (6/3250; 0.18%). In addition, only one out of five tumor samples showed loss‐of‐heterozygosity of the wild‐type FANCG allele. Finally, none of the nine functionally tested rare recurrent missense FANCG variants impaired DNA repair activities (FANCD2 monoubiquitination and FANCD2 foci formation) upon DNA damage, in contrast to all tested FANCG truncations.ConclusionOur study suggests that heterozygous germline FANCG variants are unlikely to contribute to the development of BC or OC.
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Details
Published
Aug 01, 2024
Vol/Issue
13(16)
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Authors
J
Jana Soukupova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

B
Barbora Stastna

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; Laboratory of Cancer Cell Biology Institute of Molecular Genetics of the Czech Academy of Sciences Prague Czech Republic; Department of Biochemistry, Faculty of Science Charles University Prague Czech Republic

M
Madiha Kanwal

Laboratory of Cancer Cell Biology Institute of Molecular Genetics of the Czech Academy of Sciences Prague Czech Republic

J
Jan Hojny

Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

P
Petra Zemankova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; Institute of Pathological Physiology, First Faculty of Medicine, Charles University Prague Czech Republic

M
Marianna Borecka

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

L
Leona Cerna

Centre for Medical Genetics and Reproductive Medicine, GENNET Prague Czech Republic

M
Marta Cerna

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

M
Monika Cerna

Institute of Medical Genetics, University Hospital Pilsen Pilsen Czech Republic

V
Vaclava Curtisova

Department of Medical Genetics Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University Olomouc Czech Republic

T
Tatana Dolezalova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

P
Petra Duskova

Hospital Ceske Budejovice Ceske Budejovice Czech Republic

L
Lenka Foretova

Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic

O
Ondrej Havranek

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; BIOCEV, First Faculty of Medicine Charles University Vestec Czech Republic

K
Klara Horackova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

M
Milena Hovhannisyan

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

L
Lucie Hruskova

Department of Medical Genetics GHC Genetics Prague Czech Republic

S
Stepan Chvojka

Centre for Medical Genetics and Reproductive Medicine, GENNET Prague Czech Republic

M
Marketa Janatova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

M
Maria Janikova

Department of Medical Genetics Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University Olomouc Czech Republic

S
Sandra Jelinkova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

P
Pavel Just

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

M
Marta Kalousova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

P
Petra Kleiblova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

M
Marcela Kosarova

Department of Medical Genetics Pronatal Prague Czech Republic

M
Monika Koudova

Centre for Medical Genetics and Reproductive Medicine, GENNET Prague Czech Republic

J
Jan Král

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

M
Michaela Krausova

Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

V
Vera Krutilkova

Department of Medical Genetics, AGEL Laboratories AGEL Research and Training Institute Novy Jicin Czech Republic

E
Eva Machackova

Department of Cancer Epidemiology and Genetics Masaryk Memorial Cancer Institute Brno Czech Republic

K
Katerina Matejkova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; Department of Genetics and Microbiology, Faculty of Science Charles University in Prague Prague Czech Republic

R
Renata Michalovska

Department of Medical Genetics GHC Genetics Prague Czech Republic

P
Petr Nehasil

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; Institute of Pathological Physiology, First Faculty of Medicine, Charles University Prague Czech Republic; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

B
Barbora Nemcova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

J
Jan Novotný

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; Institute for Clinical and Experimental Medicine Prague Czech Republic

M
Matous Palek

Laboratory of Cancer Cell Biology Institute of Molecular Genetics of the Czech Academy of Sciences Prague Czech Republic

P
Pavel Pesek

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

M
Marketa Safarikova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

O
Ondrej Scheinost

Hospital Ceske Budejovice Ceske Budejovice Czech Republic

D
Drahomira Springer

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

L
Lenka Stolarova

Laboratory of Cancer Cell Biology Institute of Molecular Genetics of the Czech Academy of Sciences Prague Czech Republic

V
Viktor Stránecký

Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

I
Ivan Subrt

Institute of Medical Genetics, University Hospital Pilsen Pilsen Czech Republic

S
Spiros Tavandzis

Department of Medical Genetics, AGEL Laboratories AGEL Research and Training Institute Novy Jicin Czech Republic

E
Eva Tureckova

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

K
Kamila Vesela

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

Z
Zdenka Vlckova

Department of Medical Genetics GHC Genetics Prague Czech Republic

M
Michal Vocka

Department of Oncology, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic

T
Tomas Zima

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic

L
Libor Macurek

Laboratory of Cancer Cell Biology Institute of Molecular Genetics of the Czech Academy of Sciences Prague Czech Republic

Z
Zdenek Kleibl

Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague Prague Czech Republic; Institute of Pathological Physiology, First Faculty of Medicine, Charles University Prague Czech Republic

Funding
Ministerstvo Školství, Mládeže a Tělovýchovy Award: EXCELES ‐ LX22NPO5102
Ministerstvo Zdravotnictví Ceské Republiky Award: DRO‐VFN‐64165
Grantová Agentura, Univerzita Karlova Award: SVV 260631
Cite This Article
Jana Soukupova, Barbora Stastna, Madiha Kanwal, et al. (2024). A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer. Cancer Medicine, 13(16). https://doi.org/10.1002/cam4.70103
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