Cancer and Brain Genomics (CBG)

Inserm UMR1245 – Université de Rouen Normandie

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Accueil » Publications » Publications de l’équipe 1

Publications de l’équipe 1

Genetic predisposition to cancer Team 2021-2026 in chronological order

Original articles as first/last/corresponding

  1. Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF; FREX Consortium; Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A, Nicolas G. Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. Eur J Hum Genet. 2021 Jan;29(1):99-109. doi: 10.1038/s41431-020-0672-2. Epub 2020 Jun 26. PMID: 32591635; PMCID: PMC7852510. https://pmc.ncbi.nlm.nih.gov/articles/PMC7852510/
  2. Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. PMID: 33454955. https://onlinelibrary.wiley.com/doi/10.1111/cge.13925
  3. Saint-Martin C, Cauchois-Le Mière M, Rex E, Soukarieh O, Arnoux JB, Buratti J, Bouvet D, Frébourg T, Gaildrat P, Shyng SL, Bellanné-Chantelot C, Martins A. Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism. Hum Mutat. 2021 Apr;42(4):408-420. doi: 10.1002/humu.24164. Epub 2021 Jan 28. PMID: 33410562; PMCID: PMC8049974. https://onlinelibrary.wiley.com/doi/10.1002/humu.24164
  4. Raad S, Rolain M, Coutant S, Derambure C, Lanos R, Charbonnier F, Bou J, Bouvignies E, Lienard G, Vasseur S, Farrell M, Ingster O, Baert Desurmont S, Kasper E, Bougeard G, Frébourg T, Tournier I. Blood functional assay for rapid clinical interpretation of germline TP53 variants. J Med Genet. 2021 Dec;58(12):796-805. doi: 10.1136/jmedgenet-2020-107059. Epub 2020 Oct 13. PMID: 33051313; PMCID: PMC8639931. https://jmg.bmj.com/content/58/12/796.long
  5. Thariat J, Chevalier F, Orbach D, Ollivier L, Marcy PY, Corradini N, Beddok A, Foray N, Bougeard G. Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes. Lancet Oncol. 2021 Dec;22(12):e562-e574. doi: 10.1016/S1470-2045(21)00425-3. PMID: 34856153. https://www.sciencedirect.com/science/article/pii/S1470204521004253?via%3Dihub
  6. Kasper E, Coutant S, Manase S, Vasseur S, Macquère P, Bougeard G, Faivre L, Ingster O, Baert-Desurmont S, Houdayer C. Detecting inversions in routine molecular diagnosis in MMR genes. Fam Cancer. 2022 Oct;21(4):423-428. doi: 10.1007/s10689-021-00287-5. Epub 2022 Jan 8. PMID: 34997397. https://link.springer.com/article/10.1007/s10689-021-00287-5
  7. Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, Ka C, Ferec C, Fichou Y, Quesnelle C, Aucouturier C, Muller E, Vaur D, Castera L, Boulouard F, Ricou A, Tubeuf H, Soukarieh O, Gaildrat P, Riant F, Guillaud-Bataille M, Caputo SM, Caux-Moncoutier V, Boutry-Kryza N, Bonnet-Dorion F, Schultz I, Rossing M, Quenez O, Goldenberg L, Harter V, Parsons MT, Spurdle AB, Frébourg T, Martins A, Houdayer C, Krieger S. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. Hum Mutat. 2022 Dec;43(12):2308-2323. doi: 10.1002/humu.24491. Epub 2022 Nov 20. PMID: 36273432. https://onlinelibrary.wiley.com/doi/10.1002/humu.24491
  8. Levacher C, Viennot M, Drouet A, Beaussire L, Coutant S, Théry JC, Baert-Desurmont S, Laé M, Ruminy P, Houdayer C. Disequilibrium between BRCA1 and BRCA2 Circular and Messenger RNAs Plays a Role in Breast Cancer. Cancers (Basel). 2023 Apr 6;15(7):2176. doi: 10.3390/cancers15072176. PMID: 37046838; PMCID: PMC10093293. https://www.mdpi.com/2072-6694/15/7/2176
  9. Meulemans L, Baert Desurmont S, Waill MC, Castelain G, Killian A, Hauchard J, Frebourg T, Coulet F, Martins A, Muleris M, Gaildrat P. Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations. J Med Genet. 2023 May;60(5):450-459. doi: 10.1136/jmg-2022-108576. Epub 2022 Sep 16. PMID: 36113988.  https://normandie-univ.hal.science/hal-03832081v1
  10. Leman R, Muller E, Legros A, Goardon N, Chentli I, Atkinson A, Tranchant A, Castera L, Krieger S, Ricou A, Boulouard F, Joly F, Boucly R, Dumont A, Basset N, Coulet F, Chevalier LM, Rouleau E, Leitner K, González-Martin A, Gargiulo P, Lück HJ, Genestie C; PAOLA-1 investigators; Ray-Coquard I, Pujade-Lauraine E, Vaur D. Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer. Clin Cancer Res. 2023 Nov 1;29(21):4419-4429. doi: 10.1158/1078-0432.CCR-23-0898. PMID: 37756555; PMCID: PMC10618649. https://pmc.ncbi.nlm.nih.gov/articles/PMC10618649/
  11. Aucouturier C, Soirat N, Castéra L, Bertrand D, Atkinson A, Lavolé T, Goardon N, Quesnelle C, Levilly J, Barbachou S, Legros A, Caron O, Crivelli L, Denizeau P, Berthet P, Ricou A, Boulouard F, Vaur D, Krieger S, Leman R. Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipeline. BMC Genomics. 2024 Sep 30;25(1):909. doi: 10.1186/s12864-024-10741-0. PMID: 39350015; PMCID: PMC11440762. https://link.springer.com/article/10.1186/s12864-024-10741-0
  12. Vautier S, Mauillon J, Parodi N, Bou J, Kasper E, Manase S, Houdayer C, Baert-Desurmont S. SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis. Am J Med Genet A. 2024 Sep;194(9):e63648. doi: 10.1002/ajmg.a.63648. Epub 2024 May 2. PMID: 38695688. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63648
  13. Amiot J, Gubeljak L, Fontaine A, Smith D, Mortemousque I, Parodi N, Mauillon J, Kasper E, Baert-Desurmont S, Tinat J, Houdayer C. New RPS20 gene variant in colorectal cancer diagnosis: insight from a large series of patients. Fam Cancer. 2025 Feb 7;24(1):22. doi: 10.1007/s10689-025-00446-y. PMID: 39920491. https://link.springer.com/article/10.1007/s10689-025-00446-y
  14. Louis J, Rolain M, Levacher C, Baudry K, Pujol P, Ruminy P, Baert Desurmont S, Bou J, Bouvignies E, Coutant S, Kasper E, Lienard G, Vasseur S, Vezain M, Houdayer C, Charbonnier F, Bougeard G. Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript. J Med Genet. 2025 Feb 26;62(3):160-168. doi: 10.1136/jmg-2024-110449. PMID: 39788694. http://jmg.bmj.com/cgi/content/full/jmg-2024-110449?ijkey=rF0wOQBUjhqOojA&keytype=ref
  15. Leman R, Cherifi F, Leheurteur M, Theret P, Pasquesoone C, Saint-Ghislain M, Bresson L, Denoyelle C, Vigneron N, Poulain L, Delepee R, Berby B, Dremaux J, Dumont A, Blanc-Fournier C, Jeanne C, Briand M, Rousseau N, Pepin LF, Deruche E, Dumont F, Leconte A, Lequesne J, Clarisse B, Joly F, Castera L, Rouzier R. Homologous recombination deficiency (HRD) tests for ovarian cancer: a multicenter French phase II study (HERO). BMC Cancer. 2025 Jul 1;25(1):1075. doi: 10.1186/s12885-025-14423-2. PMID: 40597907; PMCID: PMC12210802. https://link.springer.com/article/10.1186/s12885-025-14423-2
  16. Aucouturier C, Goardon N, Castéra L, Atkinson A, Lavolé T, Legros A, Ricou A, Boulouard F, Krieger S, Leman R. Decipher RNA isoform combinations from minigene splicing assays and massive parallel sequencing with MAGIC. Bioinformatics. 2025 Sep 1;41(9):btaf525. doi: 10.1093/bioinformatics/btaf525. PMID: 40973179; PMCID: PMC12479391. https://pmc.ncbi.nlm.nih.gov/articles/PMC12479391/
  17. Kasper E, Boulouard F, Basset N, Golmard L, Sassi H, Bouvignies E, Branchaud M, Charbonnier C, Parodi N, Rolain M, Albuisson J, Al Saati A, Benusiglio P, Berthet P, Bidart M, Bonnet C, Bouras A, Boutry-Kryza N, Brayotel F, Bubien V, Buisson A, Castéra L, Caron O, Colas C, Coulet F, Delnatte C, Derangère V, Fievet A, Garrec C, Gauthier-Villars M, Gay-Bellile M, Goussot V, le Gall J, Lepage M, Lokchine A, Perrier A, Rouleau E, Sevenet N, Stoppa-Lyonnet D, Ravel JM, Perre PV, Vaur D, Vilquin P, Bougeard G, Baert-Desurmont S, Thery JC, Houdayer C. Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories. Int J Cancer. 2025 Sep 1;157(5):897-907. doi: 10.1002/ijc.35475. Epub 2025 Jun 11. PMID: 40501034; PMCID: PMC12232524. https://onlinelibrary.wiley.com/doi/10.1002/ijc.35475
  18. Buisine MP, Bellanne-Chantelot C, Calmels N, Vaché C, Besnard T, Cogne B, Vitobello A, Piton A, Martins A, Gaildrat P, Dhaenens CM, Gorokhova S, Boutry-Kryza N, Caputo S, Leman R, Krieger S, Le Gac G, Houdayer C. RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network. Eur J Hum Genet. 2025 Oct;33(10):1219-1227. doi: 10.1038/s41431-025-01881-2. Epub 2025 Jun 5. PMID: 40473777; PMCID: PMC12480862.
  19. Amiot J, Levacher C, Thibaut LM, Lienard G, Vasseur S, Quenez O, Coutant S, Fourneaux S, Charbonnier F, Thorn H, Legros A, Aucouturier C, Castéra L, Leman R, Kasper E, Baert-Desurmont S, Krieger S, Ruminy P, Houdayer C. Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High- Throughput RNA Splicing Analysis. J Mol Diagn. 2025 Oct;27(10):954-968. doi: 10.1016/j.jmoldx.2025.06.003. Epub 2025 Jul 23. PMID: 40712994; PMCID: PMC12597563. https://pmc.ncbi.nlm.nih.gov/articles/PMC12597563/
  20. Montellier E, Manches O, Gaucher J, Freycon C, Hoyos D, Blanchet S, Verboom M, Dutzmann CM, Coutant S, Bou J, Fin B, Olaso R, Deleuze JF, Frébourg T, Greenbaum BD, Levine AJ, Kratz CP, Bougeard G, Hainaut P. Neoantigenic properties of TP53 variants influence cancer risk in individuals with Li-Fraumeni syndrome. EBioMedicine. 2026 Jan;123:106065. doi: 10.1016/j.ebiom.2025.106065. Epub 2025 Dec 9. PMID: 41370968; PMCID: PMC12752760. https://www.sciencedirect.com/science/article/pii/S2352396425005092?via%3Dihub
  21. Levacher C, Delfosse J, Charbonnier C, Charbonnier F, Viennot M, Kasper E, Mauillon J, Parodi N, Baert-Desurmont S, Ruminy P, Houdayer C. Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple? Cancers (Basel). 2026 Feb 3;18(3):496. doi: 10.3390/cancers18030496. PMID: 41681969; PMCID: PMC12897111. https://www.mdpi.com/2072-6694/18/3/496
  22. Zeuzem N, Quilan M, Dominguez-Valentin M, Baert-Desurmont S, Horlacher M, Della Valle A, Esperon P, Neffa F, Bonfim Machado-Lopes TM, de Oliveira Nascimento IL, Pereira Toralles MB, Bomfim-Palma TF, Pavicic WH, Vaccaro CA, Spirandelli F, Santamaria-Quesada C, Jimenez G, Vaca-Paniagua F, Perdomo S, López Rivera JJ, Torrezan GT, Carraro DM, Brieger A, Serve H, Martins A, Plotz G. Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants. Eur J Hum Genet. 2026 Sep;34(9):1342-1354. doi: 10.1038/s41431-026-02072-3. Epub 2026 Mar 18. PMID: 41851261; PMCID: PMC13550630. https://www.nature.com/articles/s41431-026-02072-3
  23. Domènech-Vivó J, Tubeuf H, Mesman RLS, Drouet A, Girardi M, Alonso-Cerezo MC, Baralle D, Boutry-Kryza N, Bunyan DJ, Byers HJ, Caputo SM, Claes KBM, De la Hoya M, Evans DG, Frésard L, Krieger S, Lázaro C, Leone M, Macháčková E, Menéndez M, Moles-Fernández A, Montalban G, Mundt E, Richardson ME, Van Veen EM, Weyandt J, Balmaña J, Spurdle AB, Diez O, Vreeswijk MPG, Martins A, Gutiérrez-Enríquez S. RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium. Am J Hum Genet. 2026 Sep 3;113(9):1894-1915. doi: 10.1016/j.ajhg.2026.08.001. Epub 2026 Aug 25. PMID: 42641601
  24. Vautier S, Levacher C, Marguet F, Kasper E, Sabourin JC, Baert-Desurmont S, Ruminy P, Houdayer C. Unraveling Circular and Messenger RNA Dynamics in Colorectal Tumorigenesis: Insights into Tissue Heterogeneity and MSI-MSS Tumor Distinction. Genes (Basel). 2026 Sep 10;17(9):1091. doi: 10.3390/genes17091091. PMID: 42792985; PMCID: PMC13606699. https://www.mdpi.com/2073-4425/17/9/1091

Original articles in collaboration

  1. Tlemsani C, Bougeard G, Gauthier-Villars M, Denizeau P, Winter S, Michot C, Baujat G, Bressac B, Adam de Beaumais T, Rouchaud A, Mihoubi-Bouvier F, Bourdeaut F, Brugières L, Leblanc T, Kasper E, Corradini N; GroupOs SFCE oncogenetic’s groups. Bone sarcomas and cancer predisposition syndromes. Bull Cancer. 2025 Jun;112(6):664-680. doi: 10.1016/j.bulcan.2024.10.014. Epub 2025 Jan 22. PMID: 39848894. https://www.sciencedirect.com/science/article/pii/S0007455125000177?via%3Dihub
  2. Morak M, Pineda M, Martins A, Gaildrat P, Tubeuf H, Drouet A, Gómez C, Dámaso E, Schaefer K, Steinke-Lange V, Koehler U, Laner A, Hauchard J, Chauris K, Holinski-Feder E, Capellá G. Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group. Eur J Hum Genet. 2022 Sep;30(9):1051-1059. doi: 10.1038/s41431-022-01106-w. Epub 2022 Jun 9. PMID: 35676339; PMCID: PMC9437034. https://pmc.ncbi.nlm.nih.gov/articles/PMC9437034/
  3. Andre F, Filleron T, Kamal M, Mosele F, Arnedos M, Dalenc F, Sablin MP, Campone M, Bonnefoi H, Lefeuvre-Plesse C, Jacot W, Coussy F, Ferrero JM, Emile G, Mouret-Reynier MA, Thery JC, Isambert N, Mege A, Barthelemy P, You B, Hajjaji N, Lacroix L, Rouleau E, Tran-Dien A, Boyault S, Attignon V, Gestraud P, Servant N, Le Tourneau C, Cherif LL, Soubeyran I, Montemurro F, Morel A, Lusque A, Jimenez M, Jacquet A, Gonçalves A, Bachelot T, Bieche I. Genomics to select treatment for patients with metastatic breast cancer. Nature. 2022 Oct;610(7931):343-348. doi: 10.1038/s41586-022-05068-3. Epub 2022 Sep 7. PMID: 36071165. https://www.nature.com/articles/s41586-022-05068-3
  4. Jacot W, Lusque A, Vicier C, Mailliez A, de La Motte Rouge T, Cabel L, Levy C, Patsouris A, Desmoulins I, Uwer L, Thery JC, Robain M, Caron O, Tredan O, Filleron T, Frenel JS, Delaloge S. Outcomes of patients with HER2-negative metastatic breast cancer after platinum- and non-platinum-based first-line chemotherapy among patients with and without pathogenic germline BRCA1/2 mutations. Br J Cancer. 2022 Nov;127(11):1963-1973. doi: 10.1038/s41416-022-02003-1. Epub 2022 Oct 7. PMID: 36207609; PMCID: PMC9681869. https://pmc.ncbi.nlm.nih.gov/articles/PMC9681869/
  5. Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Tveit Haavind M, Innella G, Turchetti D, Aretz S, Spier I, Tischkowitz M, Jahn A, Links TP, Olderode-Berends MJW, Blatnik A, Leter EM, Evans DG, Woodward ER, Steinke-Lange V, Anastasiadou VC, Colas C, Villy MC, Benusiglio PR, Gerasimenko A, Barili V, Branchaud M, Houdayer C, Tesi B, Yazicioglu MO, van der Post RS, Schuurs-Hoeijmakers JHM; PTEN Study Group; Vos JR. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. J Natl Cancer Inst. 2023 Jan 10;115(1):93-103. doi: 10.1093/jnci/djac188. PMID: 36171661. https://academic.oup.com/jnci/article/115/1/93/6726192
  6. Kolodziejczak AS, Guerrini-Rousseau L, Planchon JM, Ecker J, Selt F, Mynarek M, Obrecht D, Sill M, Autry RJ, Zhao E, Hirsch S, Amouyal E, Dufour C, Ayrault O, Torrejon J, Waszak SM, Ramaswamy V, Pentikainen V, Demir HA, Clifford SC, Schwalbe EC, Massimi L, Snuderl M, Galbraith K, Karajannis MA, Hill K, Li BK, Walsh M, White CL, Redmond S, Loizos L, Jakob M, Kordes UR, Schmid I, Hauer J, Blattmann C, Filippidou M, Piccolo G, Scheurlen W, Farrag A, Grund K, Sutter C, Pietsch T, Frank S, Schewe DM, Malkin D, Ben-Arush M, Sehested A, Wong TT, Wu KS, Liu YL, Carceller F, Mueller S, Stoller S, Taylor MD, Tabori U, Bouffet E, Kool M, Sahm F, von Deimling A, Korshunov A, von Hoff K, Kratz CP, Sturm D, Jones DTW, Rutkowski S, van Tilburg CM, Witt O, Bougeard G, Pajtler KW, Pfister SM, Bourdeaut F, Milde T. Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome. Neuro Oncol. 2023 Jun 28:noad114. doi: 10.1093/neuonc/noad114. Epub ahead of print. PMID: 37379234. https://pmc.ncbi.nlm.nih.gov/articles/PMC10708940/
  7. Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De Nicolo A, Hahnen E, Claes KBM, Ngeow J, Momozawa Y, James PA, Couch FJ, Macurek L, Kleibl Z. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. PMID: 37449874; PMCID: PMC10425727. https://pmc.ncbi.nlm.nih.gov/articles/PMC10425727/
  8. Sautreuil C, Lecointre M, Derambure C, Brasse-Lagnel C, Leroux P, Laquerrière A, Nicolas G, Gil S, Savage DD, Marret S, Marguet F, Falluel-Morel A, Gonzalez BJ. Prenatal Alcohol Exposure Impairs the Placenta-Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways. Int J Mol Sci. 2023 Aug 30;24(17):13484. doi: 10.3390/ijms241713484. PMID: 37686296; PMCID: PMC10488081. https://pmc.ncbi.nlm.nih.gov/articles/PMC10488081/
  9. Le Gall J, Dehainault C, Boutte M, Petitalot A, Caputo SM, Courtois L, Vacher S, Bieche I, Radvanyi F, Pacquement H, Doz F, Lumbroso-Le Rouic L, Gauthier Villars M, Stoppa-Lyonnet D, Lallemand F, Houdayer C, Golmard L. Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition. J Med Genet. 2023 Aug 4:jmg-2022-109105. doi: 10.1136/jmg-2022-109105. Epub ahead of print. PMID: 37541786. https://jmg.bmj.com/content/61/1/78.long
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