Adzhubei I., Jordan D. M. and Sunyaev S. R. 2013 Predicting functional effect of human missense mutations using PolyPhen-2. Curr. Protoc. Hum. Genet. 76, 7–20.
Afgan E., Baker D., van den Beek M., Blankenberg D., Bouvier D., Čech M. et al. 2016 The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update. Nucleic Acids Res. 44, 3–10.
Amberger J. S., Bocchini C. A., Schiettecatte F., Scott A. F. and Hamosh A. 2015 OMIM. org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. J. Nucleic Acids 43, 789–798.
Baker P. R., Friederich M. W., Swanson M. A., Shaikh T., Bhattacharya K., Scharer G. H. et al. 2014 Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain 137, 366–379.
Bhattacharya S., Srinivasan K., Abdisalaam S., Su F., Raj P., Dozmorov I. et al. 2017 RAD51 interconnects between DNA replication, DNA repair and immunity. Nucleic Acids Res. 45, 4590–4605.
Biswas S., Manekar S. and Bakshi S. R. 2023 A case study on PPM1D and 9 other shared germline alterations in a family. Asian Pac. J. Cancer Prev. 24, 2129–2134.
Brown G. K., Otero L. J., LeGris M. and Brown R. M. 1994 Pyruvate dehydrogenase deficiency. J. Med. Genet. 31, 875–879.
Bueno-Martínez E., Sanoguera-Miralles L., Valenzuela-Palomo A., Lorca V., Gómez-Sanz A., Carvalho S. et al. 2021 RAD51D Aberrant splicing in breast cancer: identification of splicing regulatory elements and minigene-based evaluation of 53 DNA variants. J. Cancer. 13, 2845.
Cai Y., He Q., Liu W., Liang Q., Peng B., Li J. et al. 2022 Comprehensive analysis of the potential cuproptosis-related biomarker LIAS that regulates prognosis and immunotherapy of pan-cancers. Front. Oncol. 12, 952129.
Colonne C. K., Favaloro E. J. and Pasalic L. 2022 The intriguing connections between Von Willebrand Factor, ADAMTS13 and cancer. Healthcare. 10, 557.
Davydov E. V., Goode D. L., Sirota M., Cooper G. M., Sidow A. and Batzoglou S. 2010 Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput. Biol. 6, e1001025.
de Vries L., Behar D. M., Smirin-Yosef P., Lagovsky I., Tzur S. and Basel-Vanagaite L. 2014 Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J. Clin. Endocrinol. Metab. 99, 2129–2132.
Fan C., Zhang J., Ouyang T., Li J., Wang T., Fan Z. et al. 2018 RAD50 germline mutations are associated with poor survival in BRCA1/2-negative breast cancer patients. Int. J. Cancer. 143, 1935–1942.
Gardner S. A., Weymouth K. S., Kelly W. S., Bogdanova E., Chen W., Lupu D. et al. 2018 Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory. Hered. Cancer Clin. Pract. 16, 1–10.
Gudmundsson S., Singer-Berk M., Watts N. A., Phu W., Goodrich J. K., Solomonson M. et al. 2022 Variant interpretation using population databases: lessons from GnomAD. Hum. Mutat. 43, 1012–1030.
Henkel J., Laner A., Locher M., Wohlfrom T., Neitzel B., Becker K. et al. 2023 Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients. Eur. J. Hum. Genet. 31, 925–930.
Hosoya N. and Miyagawa K. 2021 Synaptonemal complex proteins modulate the level of genome integrity in cancers. Cancer Sci. 112, 989–996.
Ji K., Ao S., He L., Zhang L., Feng L. and Lyu G. 2020 Characteristics of cancer susceptibility genes mutations in 282 patients with gastric adenocarcinoma. Chin. J. Cancer Res. 32, 508–515.
Köhler S., Carmody L., Vasilevsky N., Jacobsen J. O. B., Danis D., Gourdine J. P. et al. 2019 Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. J. Nucleic Acids. 47, 1018–1027.
Landrum M. J., Chitipiralla S., Brown G. R., Chen C., Gu B., Hart J. et al. 2020 ClinVar: improvements to accessing data. J. Nucleic Acids. 48, 835–844.
Li Y., Li X., Li X., Zhong Y., Ji Y., Yu D. et al. 2016 PDHA1 gene knockout in prostate cancer cells results in metabolic reprogramming towards greater glutamine dependence. Oncotarget. 7, 53837–53852.
Liu Z., Yu M., Fei B., Fang X., Ma T. and Wang D. 2018 miR-21-5p targets PDHA1 to regulate glycolysis and cancer progression in gastric cancer. Oncol Rep. 40, 2955–2963.
Loveday C., Turnbull C., Ramsay E., Hughes D., Ruark E., Frankum J. R. et al. 2011 Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat. Genet. 43, 879–882.
Lowe D. G. 1999 Object recognition from local scale-invariant features. In proceedings of the seventh IEEE international conference on computer vision 2, 1150–1157.
Maor-Sagie E., Cinnamon Y., Yaacov B., Shaag A., Goldsmidt H., Zenvirt S. et al. 2015 Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. J. Assist. Reprod. Gene. 32, 887–891.
Mayr J. A., Zimmermann F. A., Fauth C., Bergheim C., Meierhofer D., Radmayr D. et al. 2011 Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am. J. Hum. Genet. 89, 792–797.
McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A. et al. 2010 The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297–1303.
Rajkumar T., Soumittra N., Nancy N. K., Swaminathan R., Sridevi V. and Shanta V. 2003 BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac. J. Cancer Prev. 4, 203–208.
Ramani R., Krumholz K., Huang Y. F. and Siepel A. 2019 PhastWeb: a web interface for evolutionary conservation scoring of multiple sequence alignments using phastCons and phyloP. J. Bioinform. 35, 2320–2322.
Rivera B., Di Iorio M., Frankum J., Nadaf J., Fahiminiya S., Arcand S. L. et al. 2017 Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma. Cancer Res. 77, 4517–4529.
Robinson J. T., Thorvaldsdóttir H., Winckler W., Guttman M., Lander E. S., Getz G. et al. 2011 Integrative genomics viewer. Nat. Biotechnol. 29, 24–26.
Samadder N. J., Riegert-Johnson D., Boardman L., Rhodes D., Wick M., Okuno S. et al. 2021 Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome. Jamaoncol. 7, 230–237.
Sayers E. W., Bolton E. E., Brister J. R., Canese K., Chan J., Comeau D. C. et al. 2022 Database resources of the national center for biotechnology information. J. Nucleic Acids. 50, 20–26.
Sharma Bhai P., Sharma D., Saxena R. and Verma I. C. 2017 Next-generation sequencing reveals a nonsense mutation (p. Arg364Ter) in MRE11A gene in an Indian Patient with familial breast cancer. Breast Care (basel) 12, 114–116.
Smigielski E. M., Sirotkin K., Ward M. and Sherry S. T. 2000 dbSNP: a database of single nucleotide polymorphisms. J. Nucleic Acids. 28, 352–355.
Song H., Dicks E., Ramus S. J., Tyrer J. P., Intermaggio M. P., Hayward J. et al. 2015 Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population. J. Clin. Oncol. 33, 2901–2907.
Steinhaus R., Proft S., Schuelke M., Cooper D. N., Schwarz J. M. and Seelow D. 2021 MutationTaster2021. J. Nucleic Acids. 49, 446–451.
Stenson P. D., Mort M., Ball E. V., Shaw K., Phillips A. and Cooper D. N. 2014 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. J. Hum. Genet. 133, 1–9.
Strauch Y., Lord J., Niranjan M. and Baralle D. 2022 CI-SpliceAI-Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites. PLoS ONE. 17, e0269159.
Van Dorland H. A., Taleghani M. M., Sakai K., Friedman K. D., George J. N., Hrachovinova I. et al. 2019 The international hereditary thrombotic thrombocytopenic purpura registry: key findings at enrollment until 2017. Haematologica. 104, 2107–2115.
Wang Z., Jia R., Wang L., Yang Q., Hu X., Fu Q. et al. 2022 The emerging roles of rad51 in cancer and its potential as a therapeutic target. Front. Oncol. 12, 935593.
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