Giudice LC. Endometriosis. N Engl J Med. 2010;362:2389–98.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vigano P, Candiani M, Monno A, Giacomini E, Vercellini P, Somigliana E. Time to redefine endometriosis including its pro-fibrotic nature. Hum Reprod. 2018;33:347–52.

Article  CAS  PubMed  Google Scholar 

Zondervan KT, Becker CM, Missmer SA. Endometriosis. N Engl J Med. 2020;382:1244–56.

Article  CAS  PubMed  Google Scholar 

Vercellini P, Viganò P, Somigliana E, Fedele L. Endometriosis: pathogenesis and treatment. Nat Rev Endocrinol. 2014;10:261–75.

Article  CAS  PubMed  Google Scholar 

Imperiale L, Nisolle M, Noël J-C, Fastrez M. Three types of endometriosis: pathogenesis, diagnosis and treatment. State of the art. J Clin Med. 2023;12:994.

Article  PubMed  PubMed Central  Google Scholar 

Saha R, Pettersson HJ, Svedberg P, Olovsson M, Bergqvist A, Marions L, et al. Heritability of endometriosis. Fertil Steril. 2015;104:947–52.

Article  PubMed  Google Scholar 

Uno S, Zembutsu H, Hirasawa A, Takahashi A, Kubo M, Akahane T, et al. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat Genet. 2010;42:707–10.

Article  CAS  PubMed  Google Scholar 

Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J, Lee SH, et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet. 2011;43:51–4.

Article  CAS  PubMed  Google Scholar 

Albertsen HM, Chettier R, Farrington P, Ward K. Genome-wide association study link novel loci to endometriosis. PLoS ONE. 2013;8: e58257.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Steinthorsdottir V, Thorleifsson G, Aradottir K, Feenstra B, Sigurdsson A, Stefansdottir L, et al. Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis. Nat Commun. 2016;7:12350.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sobalska-Kwapis M, Smolarz B, Słomka M, Szaflik T, Kępka E, Kulig B, et al. New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population—the genome-wide association study. Eur J Obstet Gynecol Reprod Biol. 2017;217:106–12.

Article  PubMed  Google Scholar 

Rahmioglu N, Mortlock S, Ghiasi M, Møller PL, Stefansdottir L, Galarneau G, et al. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nat Genet. 2023;55:423–36.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee SH, Harold D, Nyholt DR, ANZGene Consortium, International Endogene Consortium, the Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, et al. Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer’s disease, multiple sclerosis and endometriosis. Hum Mol Genet. 2013;22:832–41.

Article  CAS  PubMed  Google Scholar 

Treloar SA, Wicks J, Nyholt DR, Montgomery GW, Bahlo M, Smith V, et al. Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. Am J Hum Genet. 2005;77:365–76.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zondervan KT, Treloar SA, Lin J, Weeks DE, Nyholt DR, Mangion J, et al. Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13–15. Hum Reprod. 2007;22:717–28.

Article  CAS  PubMed  Google Scholar 

Tapmeier TT, Rahmioglu N, Lin J, De Leo B, Obendorf M, Raveendran M, et al. Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis. Sci Transl Med. 2021;13:eabd6469.

Article  CAS  PubMed  Google Scholar 

Buggio L, Pagliardini L, Gentilini D, Braud LD, Viganò P, Vercellini P. A Rare familial case of endometriosis with very severe gynecological and obstetric complications: novel genetic variants at a glance. Gynecol Obstet Invest. 2014;77:201–4.

Article  PubMed  Google Scholar 

Isidor B, Latypova X, Ploteau S. Familial deep endometriosis: A rare monogenic disease? Eur J Obstet Gynecol Reprod Biol. 2018;221:190–3.

Article  PubMed  Google Scholar 

Matalliotakis M, Zervou MI, Matalliotaki C, Arici A, Spandidos DA, Matalliotakis I, et al. Genetic association study in a three-generation family with seven members with endometriosis. Mol Med Rep. 2017;16:6077–80.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kim HS, Kim TH, Chung HH, Song YS. Risk and prognosis of ovarian cancer in women with endometriosis: a meta-analysis. Br J Cancer. 2014;110:1878–90.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Saavalainen L, Lassus H, But A, Tiitinen A, Härkki P, Gissler M, et al. Risk of gynecologic cancer according to the type of endometriosis. Obstet Gynecol. 2018;131:1095–102.

Article  PubMed  Google Scholar 

Mortlock S, Corona RI, Kho PF, Pharoah P, Seo J-H, Freedman ML, et al. A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes. Cell Rep Med. 2022;3:100542.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bolger AM, Lohse M, Usadel B. Trimmomatic: a flexible trimmer for Illumina sequence data. Bioinformatics. 2014;30:2114–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Katainen R, Donner I, Cajuso T, Kaasinen E, Palin K, Mäkinen V, et al. Discovery of potential causative mutations in human coding and noncoding genome with the interactive software BasePlayer. Nat Protoc. 2018;13:2580–600.

Article  CAS  PubMed  Google Scholar 

Fairley S, Lowy-Gallego E, Perry E, Flicek P. The International Genome Sample Resource (IGSR) collection of open human genomic variation resources. Nucleic Acids Res. 2020;48:D941–7.

Article  CAS  PubMed  Google Scholar 

The Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature. 2011;474:609–15.

Article  PubMed Central  Google Scholar 

Quinodoz M, Royer-Bertrand B, Cisarova K, Di Gioia SA, Superti-Furga A, Rivolta C. DOMINO: using machine learning to predict genes associated with dominant disorders. Am J Hum Genet. 2017;101:623–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rentzsch P, Schubach M, Shendure J, Kircher M. CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores. Genome Med. 2021;13:31.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99:877–85.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Soslow RA, Brenton JD, Davidson B, et al. High-grade serous carcinoma of the ovary. In: Cheung AN, Ellenson LH, Gilks CB, Kim K-R, Kong CS, Lax SF, Longacre TA, Malpica A, McCluggage WG, Oliva E, Rabban JT, Soslow RA, editors. WHO classification of tumours: female genital tumours. 5th ed. Lyon: IARC Publications; 2020. p. 45–7.

Google Scholar 

Peltonen L, Perola M, Naukkarinen J, Palotie A. Lessons from studying monogenic disease for common disease. Hum Mol Genet. 2006;15:R67-74.

Article  CAS  PubMed  Google Scholar 

Uusimaa J, Kettunen J, Varilo T, Järvelä I, Kallijärvi J, Kääriäinen H, et al. The Finnish genetic heritage in 2022—from diagnosis to translational research. Dis Model Mech. 2022;15:dmm049490.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu Y, Cao M, Cai Y, Li X, Zhao C, Cui R. Dissecting the role of the FGF19-FGFR4 signaling pathway in cancer development and progression. Front Cell Dev Biol. 2020;8:95.

Article  PubMed  PubMed Central  Google Scholar 

Tate JG, Bamford S, Jubb HC, Sondka Z, Beare DM, Bindal N, et al. COSMIC: the catalogue of somatic mutations in cancer. Nucleic Acids Res. 2019;47:D941–7.

Article  CAS  PubMed  Google Scholar 

Cosmic. Wellcome Sanger Institute, Cambridgeshire. 2023. FGFR4 Hallmarks of Cancer https://cancer.sanger.ac.uk/cosmic/census-page/FGFR4. Accessed 15 June 2023.