Evidence map›Paper›PMID 39149814›Full record

ArticleCancer medicine2024

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, Leona Cerna, Marta Cerna, Monika Cerna, Vaclava Curtisova and 42 more

Abstract read
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Article in Cancer medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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3 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

52 authors.

Jana SoukupovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Barbora StastnaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Madiha KanwalLaboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
Jan HojnyInstitute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Petra ZemankovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Marianna BoreckaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Leona CernaCentre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic.
Marta CernaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Monika CernaInstitute of Medical Genetics, University Hospital Pilsen, Pilsen, Czech Republic.
Vaclava CurtisovaDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Olomouc, Czech Republic.
Tatana DolezalovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Petra DuskovaHospital Ceske Budejovice, Ceske Budejovice, Czech Republic.
Lenka ForetovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Ondrej HavranekInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Klara HorackovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Milena HovhannisyanInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Lucie HruskovaDepartment of Medical Genetics, GHC Genetics, Prague, Czech Republic.
Stepan ChvojkaCentre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic.
Marketa JanatovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Maria JanikovaDepartment of Medical Genetics, Faculty of Medicine and Dentistry, University Hospital Olomouc, Palacky University, Olomouc, Czech Republic.
Sandra JelinkovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Pavel JustInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Marta KalousovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Petra KleiblovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Marcela KosarovaDepartment of Medical Genetics, Pronatal, Prague, Czech Republic.
Monika KoudovaCentre for Medical Genetics and Reproductive Medicine, GENNET, Prague, Czech Republic.
Jan KralInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Michaela KrausovaInstitute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Vera KrutilkovaDepartment of Medical Genetics, AGEL Laboratories, AGEL Research and Training Institute, Novy Jicin, Czech Republic.
Eva MachackovaDepartment of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Katerina MatejkovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Renata MichalovskaDepartment of Medical Genetics, GHC Genetics, Prague, Czech Republic.
Petr NehasilInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Barbora NemcovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Jan NovotnyInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Matous PalekLaboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
Pavel PesekInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Marketa SafarikovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Ondrej ScheinostHospital Ceske Budejovice, Ceske Budejovice, Czech Republic.
Drahomira SpringerInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Lenka StolarovaLaboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.
Viktor StraneckyDepartment of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Ivan SubrtInstitute of Medical Genetics, University Hospital Pilsen, Pilsen, Czech Republic.
Spiros TavandzisDepartment of Medical Genetics, AGEL Laboratories, AGEL Research and Training Institute, Novy Jicin, Czech Republic.
Eva TureckovaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Kamila VeselaInstitute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Zdenka VlckovaDepartment of Medical Genetics, GHC Genetics, Prague, Czech Republic.
Michal VockaDepartment of Oncology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Tomas ZimaInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Libor MacurekLaboratory of Cancer Cell Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic.ORCID 0000-0002-0987-1238
Zdenek KleiblInstitute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.ORCID 0000-0003-2050-9667
CZECANCA consortium

Funding

Grantová Agentura, Univerzita Karlova SVV 260631Grantová Agentura, Univerzita Karlova UNCE/24/MED/022Ministerstvo Školství, Mládeže a Tělovýchovy EXCELES - LX22NPO5102Ministerstvo Školství, Mládeže a Tělovýchovy LM2023033Ministerstvo Zdravotnictví České Republiky DRO-VFN-64165Ministerstvo Zdravotnictví České Republiky NU-03-00285Ministerstvo Zdravotnictví České Republiky NU20-03-00016Ministerstvo Zdravotnictví České Republiky NU20-03-00283
6 · The paper itself

Abstract

backgroundMonoallelic 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.

Indexed as

Breast NeoplasmsFanconi Anemia Complementation Group G ProteinGenetic Predisposition to DiseaseGerm-Line MutationOvarian NeoplasmsAdultAgedCase-Control StudiesDNA RepairFemaleHumansMiddle AgedFANCG protein, humanFanconi Anemia Complementation Group G Proteinbreast cancerFanconi anemia complementation group Gfunctional analysisgermline genetic testinghereditary tumorsovarian cancer

Identifiers

PMID39149814
PMCPMC11327753

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