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2021 8
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BRCAness, Homologous Recombination Deficiencies, and Synthetic Lethality.
Murai J, Pommier Y. Murai J, et al. Cancer Res. 2023 Apr 14;83(8):1173-1174. doi: 10.1158/0008-5472.CAN-23-0628. Cancer Res. 2023. PMID: 37057596
They genetically revealed that deficiency in HR-related genes (RAD51, RAD54, DSS1, and RPA1), DNA damage signaling genes (ATR, ATM, CHK1, CHK2, and NBS1), or Fanconi anemia-related genes (FANCD2, FANCA, and FANCC) conferred sensitivity to PARP inhibitors. Thus, cells acqui …
They genetically revealed that deficiency in HR-related genes (RAD51, RAD54, DSS1, and RPA1), DNA damage signaling genes (ATR, ATM, CHK1, CH …
Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.
Yin L, Wei J, Lu Z, Huang S, Gao H, Chen J, Guo F, Tu M, Xiao B, Xi C, Zhang K, Li Q, Wu J, Gao W, Jiang K, Yu J, Miao Y. Yin L, et al. JAMA Netw Open. 2022 Feb 1;5(2):e2148721. doi: 10.1001/jamanetworkopen.2021.48721. JAMA Netw Open. 2022. PMID: 35171259 Free PMC article.
Pathogenic variants of genes associated with homologous recombination DNA damage repair, including ATM, BRCA1/2, PALB2, BRIP1, FANCA, FANCC, RAD51D, and XRCC2, were found in 34 patients with PDAC (3.4%). No Ashkenazi Jewish-specific BRCA2 variation (p.Ser1982fs) was detect …
Pathogenic variants of genes associated with homologous recombination DNA damage repair, including ATM, BRCA1/2, PALB2, BRIP1, FANCA, FAN …
Genetics of ovarian insufficiency and defects of folliculogenesis.
França MM, Mendonca BB. França MM, et al. Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101594. doi: 10.1016/j.beem.2021.101594. Epub 2021 Oct 14. Best Pract Res Clin Endocrinol Metab. 2022. PMID: 34794894 Review.
Thirty-four of these genes (AARS2, AIRE, ANTXR1, ATM, BMPR1B, CLPP, CYP17A1, CYP19A1, DCAF17, EIF2B, ERAL1, FANCA, FANCC, FMR1, FOXL2, GALT, GNAS, HARS2, HSD17B4, LARS2, LMNA, MGME1, NBN, PMM2, POLG, PREPL, RCBTB1, RECQL2/3/4, STAR, TWNK, and XRCC4/9) have been linked to s …
Thirty-four of these genes (AARS2, AIRE, ANTXR1, ATM, BMPR1B, CLPP, CYP17A1, CYP19A1, DCAF17, EIF2B, ERAL1, FANCA, FANCC, FMR1, FOXL2 …
Phase II Trial of Risk-Enabled Therapy After Neoadjuvant Chemotherapy for Muscle-Invasive Bladder Cancer (RETAIN 1).
Geynisman DM, Abbosh PH, Ross E, Zibelman MR, Ghatalia P, Anari F, Mark JR, Stamatakis L, Hoffman-Censits JH, Viterbo R, Greenberg RE, Churilla TM, Horwitz EM, Hallman MA, Smaldone MC, Uzzo R, Chen DYT, Kutikov A, Plimack ER. Geynisman DM, et al. J Clin Oncol. 2025 Mar 20;43(9):1113-1122. doi: 10.1200/JCO-24-01214. Epub 2024 Dec 16. J Clin Oncol. 2025. PMID: 39680823 Clinical Trial.
Pre-NAC transurethral bladder tumor specimens were sequenced for mutations in ATM, ERCC2, FANCC, and RB1. Patients with 1 mutation and cT0 post-NAC began AS. The primary end point was metastasis-free survival (MFS) at 2 years for the entire cohort with the null hypothesis …
Pre-NAC transurethral bladder tumor specimens were sequenced for mutations in ATM, ERCC2, FANCC, and RB1. Patients with 1 mutation an …
Distinct developmental outcomes in DNA repair-deficient FANCC c.67delG mutant and FANCC(-/-) Mice.
Beesetti S, Guy C, Sirasanagandla S, Yang M, Sumpter RJ, Sheppard H, Pelletier S, Wlodarski MW, Green DR. Beesetti S, et al. Cell Death Differ. 2025 Jul;32(7):1294-1302. doi: 10.1038/s41418-025-01461-3. Epub 2025 Feb 17. Cell Death Differ. 2025. PMID: 39962244
In the present study, we created a FANCC mutant mouse model, based on a human mutation (FANCC c.67delG) that is defective in DNA repair but proficient in mitophagy. ...In contrast, FA phenotypes such as microphthalmia, hypogonadism, and infertility, present in FA …
In the present study, we created a FANCC mutant mouse model, based on a human mutation (FANCC c.67delG) that is defective in D …
The FANCC-FANCE-FANCF complex is evolutionarily conserved and regulates meiotic recombination.
Singh DK, Gamboa RS, Singh AK, Walkemeier B, Van Leene J, De Jaeger G, Siddiqi I, Guerois R, Crismani W, Mercier R. Singh DK, et al. Nucleic Acids Res. 2023 Apr 11;51(6):2516-2528. doi: 10.1093/nar/gkac1244. Nucleic Acids Res. 2023. PMID: 36652992 Free PMC article.
Here, pursuing the same screen, we identify FANCC as a new anti-CO gene. FANCC was previously only identified in mammals because of low primary sequence conservation. We show that FANCC, and its physical interaction with FANCE-FANCF, is conserved from vertebr …
Here, pursuing the same screen, we identify FANCC as a new anti-CO gene. FANCC was previously only identified in mammals becau …
New pathogenic germline variants identified in mesothelioma.
Belcaid L, Bertelsen B, Wadt K, Tuxen I, Spanggaard I, Højgaard M, Benn Sørensen J, Ravn J, Lassen U, Cilius Nielsen F, Rohrberg K, Westmose Yde C. Belcaid L, et al. Lung Cancer. 2023 May;179:107172. doi: 10.1016/j.lungcan.2023.03.008. Epub 2023 Mar 15. Lung Cancer. 2023. PMID: 36944283 Free article. Review.
RESULTS: In total, 16 patients (36%) were found to carry pathogenic or likely pathogenic variants in 13 cancer associated genes (ATM, BAP1, BRCA2, CDKN2A, FANCA, FANCC, FANCD2, FANCM, MUTYH, NBN, RAD51B, SDHA and XPC). The germline PVs occurred in DNA repair pathways, incl …
RESULTS: In total, 16 patients (36%) were found to carry pathogenic or likely pathogenic variants in 13 cancer associated genes (ATM, BAP1, …
Correlative Analysis of ATM, RB1, ERCC2, and FANCC Mutations and Pathologic Complete Response After Neoadjuvant Chemotherapy in Patients with Muscle-invasive Bladder Cancer: Results from the SWOG S1314 Trial.
Plimack ER, Tangen C, Plets M, Kokate R, Xiu J, Nabhan C, Ross EA, Grundy E, Choi W, Dinney CPN, Lee IC, Fong M, Scott Lucia M, Daneshmand S, Theodorescu D, Goldkorn A, Lerner SP, Flaig TW, McConkey DJ. Plimack ER, et al. Eur Urol. 2024 Oct;86(4):297-300. doi: 10.1016/j.eururo.2024.06.018. Epub 2024 Jul 14. Eur Urol. 2024. PMID: 39003201 Free PMC article.
We previously reported that tumors harboring any one of four gene mutations (ATM, RB1, FANCC, or ERCC2) were likely to respond to neoadjuvant cisplatin-based chemotherapy (NAC), resulting in cancer-free surgical specimens at the time of cystectomy (pT0). ...
We previously reported that tumors harboring any one of four gene mutations (ATM, RB1, FANCC, or ERCC2) were likely to respond to neo …
Association of variations in the Fanconi anemia complementation group and prognosis in Non-small cell lung cancer patients with Platinum-based chemotherapy.
Mo JL, Liu JS, Xiao Q, Hong WX, Yin JY, Chen J, Liu ZQ. Mo JL, et al. Gene. 2022 May 30;825:146398. doi: 10.1016/j.gene.2022.146398. Epub 2022 Mar 16. Gene. 2022. PMID: 35306114
PURPOSE: To explore the associations between FANC (FANCA, FANCC, FANCE, FANCF, and FANCJ) single nucleotide polymorphisms (SNPs) and prognosis of non-small cell lung cancer (NSCLC) patients with platinum-based chemotherapy. ...
PURPOSE: To explore the associations between FANC (FANCA, FANCC, FANCE, FANCF, and FANCJ) single nucleotide polymorphisms (SNPs) and …
In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.
Shahid M, Azfaralariff A, Zubair M, Abdulkareem Najm A, Khalili N, Law D, Firasat S, Fazry S. Shahid M, et al. Gene. 2022 Feb 20;812:146104. doi: 10.1016/j.gene.2021.146104. Epub 2021 Dec 2. Gene. 2022. PMID: 34864095
Among the 22 Fanconi anemia (FA) reported genes, 90% of mutational spectra were found in three genes, namely FANCA (64%), FANCC (12%) and FANCG (8%). Therefore, this study aimed to identify the high-risk deleterious variants in three selected genes (FANCA, FANCC, an …
Among the 22 Fanconi anemia (FA) reported genes, 90% of mutational spectra were found in three genes, namely FANCA (64%), FANCC (12%) …
40 results