https://ecis.jcr.ec.europa.eu Accessed 6 July 2022.

Dyba T, Randi G, Bray F, Martos C, Giusti F, Nicholson N, Gavin A, Flego M, Neamtiu L, Dimitrova N, Negrão Carvalho R, Ferlay J, Bettio M. The European cancer burden in 2020: Incidence and mortality estimates for 40 countries and 25 major cancers. Eur J Cancer. 2021;157:308–47. https://doi.org/10.1016/j.ejca.2021.07.039. Epub 2021 Sep 21. PMID: 34560371; PMCID: PMC8568058.

Article  Google Scholar 

Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K. Environmental and heritable factors in the causation of cancer–analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 2000;343(2):78–85. https://doi.org/10.1056/NEJM200007133430201. PMID: 10891514.

Article  CAS  Google Scholar 

Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology. 2010;138(6):2044–58. https://doi.org/10.1053/j.gastro.2010.01.054. PMID:20420945;PMCID:PMC3057468.

Article  CAS  Google Scholar 

Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453–6. https://doi.org/10.1016/s0016-5085(99)70510-x. PMID: 10348829.

Article  CAS  Google Scholar 

Garcia FAO, de Andrade ES, de Campos Reis Galvão H, da Silva Sábato C, Campacci N, de Paula AE, Evangelista AF, Santana IVV, Melendez ME, Reis RM, Palmero EI. New insights on familial colorectal cancer type X syndrome. Sci Rep. 2022;12(1):2846. https://doi.org/10.1038/s41598-022-06782-8. PMID: 35181726; PMCID: PMC8857274.

Article  CAS  Google Scholar 

Terradas M, Capellá G, Valle L. Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes. J Clin Med. 2020;9(6):1954. https://doi.org/10.3390/jcm9061954.PMID:32585810;PMCID:PMC7355797.

Article  CAS  Google Scholar 

Wu LC, Wang ZW, Tsan JT, Spillman MA, Phung A, Xu XL, Yang MC, Hwang LY, Bowcock AM, Baer R. Identification of a RING protein that can interact in vivo with the BRCA1 gene product. Nat Genet. 1996;14(4):430–40. https://doi.org/10.1038/ng1296-430. PMID: 8944023.

Article  CAS  Google Scholar 

Cimmino F, Formicola D, Capasso M. Dualistic Role of BARD1 in Cancer. Genes (Basel). 2017;8(12):375. https://doi.org/10.3390/genes8120375.PMID:29292755;PMCID:PMC5748693.

Article  Google Scholar 

Irminger-Finger I, Ratajska M, Pilyugin M. New concepts on BARD1: Regulator of BRCA pathways and beyond. Int J Biochem Cell Biol. 2016;72:1–17. https://doi.org/10.1016/j.biocel.2015.12.008. Epub 2015 Dec 29 PMID: 26738429.

Article  CAS  Google Scholar 

Li M, Yu X. Function of BRCA1 in the DNA damage response is mediated by ADP-ribosylation. Cancer Cell. 2013;23(5):693–704. https://doi.org/10.1016/j.ccr.2013.03.025. PMID:23680151;PMCID:PMC3759356.

Article  CAS  Google Scholar 

Sporn JC, Hothorn T, Jung B. BARD1 expression predicts outcome in colon cancer. Clin Cancer Res. 2011;17(16):5451–62. https://doi.org/10.1158/1078-0432.CCR-11-0263. Epub 2011 Jun 21. PMID: 21693656; PMCID: PMC3372413.

Article  CAS  Google Scholar 

Breast Cancer Association Consortium, Dorling L, Carvalho S, et al. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. N Engl J Med. 2021;384(5):428–39. https://doi.org/10.1056/NEJMoa1913948. Epub 2021 Jan 20. PMID: 33471991; PMCID: PMC7611105.

Article  Google Scholar 

Hu C, Hart SN, Gnanaolivu R, et al. A Population-Based Study of Genes Previously Implicated in Breast Cancer. N Engl J Med. 2021;384(5):440–51. https://doi.org/10.1056/NEJMoa2005936. Epub 2021 Jan 20. PMID: 33471974; PMCID: PMC8127622.

Article  Google Scholar 

Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology. 2015;149(3):604-13.e20. https://doi.org/10.1053/j.gastro.2015.05.006. Epub 2015 May 14. PMID: 25980754; PMCID: PMC4550537.

Article  CAS  Google Scholar 

Esteban-Jurado C, Vila-Casadesús M, Garre P, Lozano JJ, Pristoupilova A, Beltran S, Muñoz J, Ocaña T, Balaguer F, López-Cerón M, Cuatrecasas M, Franch-Expósito S, Piqué JM, Castells A, Carracedo A, Ruiz-Ponte C, Abulí A, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. Genet Med. 2015;17(2):131–42. https://doi.org/10.1038/gim.2014.89. Epub 2014 Jul 24. Erratum in: Genet Med. 2014 Dec;16(12):988-9. PMID: 25058500; PMCID: PMC4318970.

Article  CAS  Google Scholar 

Brierley JD, Gospodarowicz MK, Wittekind C, editors. The TNM classification of malignant tumours. 8. Oxford: Wiley Blackwell; 2017.

https://www.insight-group.org/ Accessed 6 July 2022.

https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php Accessed 6 July 2022.

http://www.ncbi.nlm.nih.gov/clinvar/ Accessed 6 July 2022.

http://www.1000genomes.org/data Accessed 6 July 2022.

http://exac.broadinstitute.org/ Accessed 6 July 2022.

https://www.ncbi.nlm.nih.gov/projects/SNP/snp_summary.cgi Accessed 6 July 2022.

http://gnomad.broadinstitute.org/ Accessed 6 July 2022.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. https://doi.org/10.1038/gim.2015.30. Epub 2015 Mar 5. PMID: 25741868; PMCID: PMC4544753.

Article  Google Scholar 

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants. Genet Med. 2020;22(2):336–44. https://doi.org/10.1038/s41436-019-0655-2. Epub 2019 Sep 19. Erratum in: Genet Med. 2019 Dec 17. PMID: 31534211.

Article  Google Scholar 

Cavaillé M, Uhrhammer N, Privat M, Ponelle-Chachuat F, Gay-Bellile M, Lepage M, Molnar I, Viala S, Bidet Y, Bignon YJ. Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition. Genes Chromosomes Cancer. 2021;60(2):73–8. https://doi.org/10.1002/gcc.22911. Epub 2020 Nov 10. PMID: 33099839; PMCID: PMC7756731.

Article  CAS  Google Scholar 

Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C. BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort. Genes (Basel). 2021;12(2):150. https://doi.org/10.3390/genes12020150. PMID:33498765;PMCID:PMC7911518.

Article  CAS  Google Scholar 

Carter NJ, Marshall ML, Susswein LR, Zorn KK, Hiraki S, Arvai KJ, Torene RI, McGill AK, Yackowski L, Murphy PD, Xu Z, Solomon BD, Klein RT, Hruska KS. Germline pathogenic variants identified in women with ovarian tumors. Gynecol Oncol. 2018;151(3):481–8. https://doi.org/10.1016/j.ygyno.2018.09.030. Epub 2018 Oct 12 PMID: 30322717.

Article  Google Scholar 

Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A. Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants. Sci Rep. 2022;12(1):8547. https://doi.org/10.1038/s41598-022-12480-2. PMID:35595798;PMCID:PMC9122922.

Article  CAS  Google Scholar 

AlDubayan SH, Giannakis M, Moore ND, Han GC, Reardon B, Hamada T, Mu XJ, Nishihara R, Qian Z, Liu L, Yurgelun MB, Syngal S, Garraway LA, Ogino S, Fuchs CS, Van Allen EM. Inherited DNA-Repair Defects in Colorectal Cancer. Am J Hum Genet. 2018;102(3):401–14. https://doi.org/10.1016/j.ajhg.2018.01.018. Epub 2018 Feb 22. PMID: 29478780; PMCID: PMC5985280.

Article  CAS  Google Scholar 

Toh MR, Chong ST, Chan SH, Low CE, Ishak NDB, Lim JQ, Courtney E, Ngeow J. Functional analysis of clinical BARD1 germline variants. Cold Spring Harb Mol Case Stud. 2019;5(4):a004093. https://doi.org/10.1101/mcs.a004093. PMID: 31371347; PMCID: PMC6672023.

Article  CAS  Google Scholar 

Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, Schrag D, Meyerhardt JA, Ng K, Kidd J, Singh N, Hartman AR, Wenstrup RJ, Syngal S. Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. J Clin Oncol. 2017;35(10):1086–95. https://doi.org/10.1200/JCO.2016.71.0012. Epub 2017 Jan 30. PMID: 28135145; PMCID: PMC5455355.

Article  CAS  Google Scholar 

Valle L, Vilar E, Tavtigian SV, Stoffel EM. Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine. J Pathol. 2019;247(5):574–88. https://doi.org/10.1002/path.5229. Epub 2019 Feb 20. PMID: 30584801; PMCID: PMC6747691.

Article  Google Scholar 

Hawsawi YM, Shams A, Theyab A, Abdali WA, Hussien NA, Alatwi HE, Alzahrani OR, Oyouni AAA, Babalghith AO, Alreshidi M. BARD1 mystery: tumor suppressors are cancer susceptibility genes. BMC Cancer. 2022;22(1):599. https://doi.org/10.1186/s12885-022-09567-4. PMID:35650591;PMCID:PMC9161512.

Article  CAS  Google Scholar 

Watters AK, Seltzer ES, MacKenzie D Jr, Young M, Muratori J, Hussein R, Sodoma AM, To J, Singh M, Zhang D. The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers. Genes (Basel). 2020;11(7):829. https://doi.org/10.3390/genes11070829. PMID:32708251;PMCID:PMC7396976.

Article  CAS  Google Scholar 

Zhang YQ, Pilyugin M, Kuester D, Leoni VP, Li L, Casula G, Zorcolo L, Schneider-Stock R, Atzori L, Irminger-Finger I. Expression of oncogenic BARD1 isoforms affects colon cancer progression and correlates with clinical outcome. Br J Cancer. 2012;107(4):675–83. https://doi.org/10.1038/bjc.2012.297. Epub 2012 Jul 19. PMID: 22814582; PMCID: PMC3419952.

Article  CAS  Google Scholar