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

被引：0

作者：

Soukupova, Jana ^{[1
,2
]}

Stastna, Barbora ^{[1
,2
,3
,4
]}

Kanwal, Madiha ^{[3
]}

Hojny, Jan ^{[2
,5
]}

Zemankova, Petra ^{[1
,2
,6
]}

Borecka, Marianna ^{[1
,2
]}

Cerna, Leona ^{[7
]}

Cerna, Marta ^{[1
,2
]}

Cerna, Monika ^{[8
]}

Curtisova, Vaclava ^{[9
]}

Dolezalova, Tatana ^{[1
,2
]}

Duskova, Petra ^{[10
]}

Foretova, Lenka ^{[11
]}

Havranek, Ondrej ^{[2
,12
,13
]}

Horackova, Klara ^{[1
,2
]}

Hovhannisyan, Milena ^{[1
,2
]}

Hruskova, Lucie ^{[14
]}

Chvojka, Stepan ^{[7
]}

Janatova, Marketa ^{[1
,2
]}

Janikova, Maria ^{[9
]}

Jelinkova, Sandra ^{[1
,2
]}

Just, Pavel ^{[1
,2
]}

Kalousova, Marta ^{[1
,2
]}

Kleiblova, Petra ^{[1
,2
,12
]}

Kosarova, Marcela ^{[15
]}

Koudova, Monika ^{[7
]}

Kral, Jan ^{[1
,2
]}

Krausova, Michaela ^{[2
,5
]}

Krutilkova, Vera ^{[16
]}

Machackova, Eva ^{[11
]}

Matejkova, Katerina ^{[1
,2
,17
]}

Michalovska, Renata ^{[14
]}

Nehasil, Petr ^{[1
,2
,6
,18
]}

Nemcova, Barbora ^{[1
,2
]}

Novotny, Jan ^{[2
,12
,19
]}

Palek, Matous ^{[3
]}

Pesek, Pavel ^{[1
,2
]}

Safarikova, Marketa ^{[1
,2
]}

Scheinost, Ondrej ^{[10
]}

Springer, Drahomira ^{[1
,2
]}

Stolarova, Lenka ^{[3
]}

Stranecky, Viktor ^{[2
,18
]}

Subrt, Ivan ^{[8
]}

Tavandzis, Spiros ^{[16
]}

Tureckova, Eva ^{[1
,2
]}

Vesela, Kamila ^{[2
,12
]}

Vlckova, Zdenka ^{[14
]}

Vocka, Michal ^{[2
,20
]}

Zima, Tomas ^{[1
,2
]}

Macurek, Libor ^{[3
]}

机构：

[1] Charles Univ Prague, Inst Med Biochem & Lab Diagnost, Fac Med 1, Katerinska 32, Prague 12108, Czech Republic

[2] Gen Univ Hosp Prague, Katerinska 32, Prague 12108, Czech Republic

[3] Czech Acad Sci, Inst Mol Genet, Lab Canc Cell Biol, Videnska 1034, Prague 14220, Czech Republic

[4] Charles Univ Prague, Fac Sci, Dept Biochem, Prague, Czech Republic

[5] Charles Univ Prague, Inst Pathol, Fac Med 1, Prague, Czech Republic

[6] Charles Univ Prague, Inst Pathol Physiol, Fac Med 1, Prague, Czech Republic

[7] Ctr Med Genet & Reprod Med, GENNET, Prague, Czech Republic

[8] Univ Hosp Plzen, Inst Med Genet, Plzen, Czech Republic

[9] Palacky Univ, Univ Hosp Olomouc, Fac Med & Dent, Dept Med Genet, Olomouc, Czech Republic

[10] Hosp Ceske Budejovice, Ceske Budejovice, Czech Republic

[11] Masaryk Mem Canc Inst, Dept Canc Epidemiol & Genet, Brno, Czech Republic

[12] Charles Univ Prague, Inst Biol & Med Genet, Fac Med 1, Prague, Czech Republic

[13] Charles Univ Prague, Fac Med 1, BIOCEV, Vestec, Czech Republic

[14] GHC Genet, Dept Med Genet, Prague, Czech Republic

[15] Pronatal, Dept Med Genet, Prague, Czech Republic

[16] AGEL Res & Training Inst, Dept Med Genet, AGEL Labs, Novy Jicin, Czech Republic

[17] Charles Univ Prague, Fac Sci, Dept Genet & Microbiol, Prague, Czech Republic

[18] Charles Univ Prague, Dept Paediat & Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic

[19] Inst Clin & Expt Med, Prague, Czech Republic

[20] Charles Univ Prague, Fac Med 1, Dept Oncol, Prague, Czech Republic

来源：

CANCER MEDICINE | 2024年 / 13卷 / 16期

关键词：

breast cancer; Fanconi anemia complementation group G; functional analysis; germline genetic testing; hereditary tumors; ovarian cancer; ANEMIA; ASSOCIATION; REPAIR;

D O I：

暂无

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: Monoallelic 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. Methods: Here, we investigated the association of germline variants in FANCG/XRCC9 with BC and OC risk. Results: The 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. Conclusion: Our study suggests that heterozygous germline FANCG variants are unlikely to contribute to the development of BC or OC.

引用

页数：9

共 50 条

[31] Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer
Wappenschmidt, Barbara
Hauke, Jan
Faust, Ulrike
Niederacher, Dieter
Wiesmueler, Lisa
Schmidt, Gunnar
Gross, Evi
Gehrig, Andrea
Sutter, Christian
Ramser, Juliane
Rump, Andreas
Arnold, Norbert
Meindl, Alfons
GEBURTSHILFE UND FRAUENHEILKUNDE, 2020, 80 (04) : 410 - 429
[32] Evaluating the association between clonal hematopoiesis and germline pathogenic and likely pathogenic variants in cancer predisposition genes.
Comen, Elizabeth Anne
Razavi, Pedram
Patel, Parth Bhargav
Martin, Axel
Seshan, Venkatraman E.
Mandelker, Diana
Ptashkin, Ryan
Kemel, Yelena
Stadler, Zsofia Kinga
Ladanyi, Marc
Berger, Michael F.
Zehir, Ahmet
Robson, Mark E.
Reis-Filho, Jorge S.
Norton, Larry
Levine, Ross L.
JOURNAL OF CLINICAL ONCOLOGY, 2020, 38 (15)
[33] Rare germline variants in childhood cancer patients suspected of genetic predisposition to cancer
Sylvester, Dianne E.
Chen, Yuyan
Grima, Natalie
Saletta, Federica
Padhye, Bhavna
Bennetts, Bruce
Wright, Dale
Krivanek, Michael
Graf, Nicole
Zhou, Li
Catchpoole, Daniel
Kirk, Judy
Latchoumanin, Olivier
Qiao, Liang
Ballinger, Mandy
Thomas, David
Jamieson, Robyn
Dalla-Pozza, Luciano
Byrne, Jennifer A.
GENES CHROMOSOMES & CANCER, 2022, 61 (02): : 81 - 93
[34] Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India
Sharma-Oates, Archana
Shaaban, Abeer M.
Tomlinson, Ian
Wynne, Luke
Cazier, Jean-Baptiste
Sundar, Sudha
PRECISION CLINICAL MEDICINE, 2018, 1 (02) : 75 - 87
[35] Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective
Molina-Zayas, Maria
Garrido-Navas, Carmen
Luis Garcia-Puche, Jose
Barwell, Julian
Pedrinaci, Susana
Martinez Atienza, Margarita
Garcia-Linares, Susana
De Haro-Munoz, Tomas
Antonio Lorente, Jose
Jose Serrano, M.
Poyatos-Andujar, Antonio
MOLECULAR GENETICS AND GENOMICS, 2022, 297 (03) : 859 - 871
[36] Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective
María Molina-Zayas
Carmen Garrido-Navas
Jose Luis García-Puche
Julian Barwell
Susana Pedrinaci
Margarita Martínez Atienza
Susana García-Linares
Tomás de Haro-Muñoz
Jose Antonio Lorente
M. Jose Serrano
Antonio Poyatos-Andújar
Molecular Genetics and Genomics, 2022, 297 : 859 - 871
[37] Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition
Santana dos Santos, E.
Caputo, S. M.
Castera, L.
Gendrot, M.
Briaux, A.
Breault, M.
Krieger, S.
Rogan, P. K.
Mucaki, E. J.
Burke, L. J.
Bieche, I.
Houdayer, C.
Vaur, D.
Stoppa-Lyonnet, D.
Brown, M. A.
Lallemand, F.
Rouleau, E.
BREAST CANCER RESEARCH AND TREATMENT, 2018, 168 (02) : 311 - 325
[38] Assessment of functional impact of germline BRCA1/2 variants located in noncoding regions in families with breast-ovarian cancer predisposition.
dos Santos, Elizabeth Santana
Gendrot, Mathilde
Caputo, Sandrine
Briaux, Adrien
Breault, Magali
Castera, Laurent
Vaur, Dominique
Krieger, Sophie
Houdayer, Claude
Bieche, Ivan
Stoppa-Lyonnet, Dominique
Lallemand, Francois
Rouleau, Etienne
JOURNAL OF CLINICAL ONCOLOGY, 2015, 33 (15)
[39] Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition
E. Santana dos Santos
S. M. Caputo
L. Castera
M. Gendrot
A. Briaux
M. Breault
S. Krieger
P. K. Rogan
E. J. Mucaki
L. J. Burke
I. Bièche
C. Houdayer
D. Vaur
D. Stoppa-Lyonnet
M. A. Brown
F. Lallemand
E. Rouleau
Breast Cancer Research and Treatment, 2018, 168 : 311 - 325
[40] The Distinct Performances of Ultrasound, Mammograms, and MRI in Detecting Breast Cancer in Patients With Germline Pathogenic Variants in Cancer Predisposition Genes
Liu, Jiaqi
Wang, Xin
Dong, Lin
Huang, Xin
Zhao, Hengqiang
Li, Jiaxin
Huang, Shengkai
Yuan, Pei
Wang, Wenyan
Wang, Jie
Xing, Zeyu
Jia, Ziqi
Ming, Yue
Li, Xiao
Qin, Ling
Liu, Gang
Wu, Jiang
Li, Yiqun
Zhang, Menglu
Feng, Kexin
Ying, Jianming
Wang, Xiang
FRONTIERS IN ONCOLOGY, 2021, 11

← 1 2 3 4 5 →