• Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.
    • Okawa Y, Iwasaki Y, Johnson TA, Ebata N, Inai C, Endo M, Maejima K, Sasagawa S, Fujita M, Matsuda K, Murakami Y, Nakamura T, Hirano S, Momozawa Y, Nakagawa H.
    • J Hepatol. 2022 Oct 12:S0168-8278(22)03137-3. doi: 10.1016/j.jhep.2022.09.025. Epub ahead of print.
    • DNA methylation of the immediate upstream region of BRCA1 major transcription start sites is an independent favorable prognostic factor in patients with high-grade serous ovarian cancer.
    • Ebata T, Yamashita S, Takeshima H, Yoshida H, Kawata Y, Kino N, Yasugi T, Terao Y, Yonemori K, Kato T, Ushijima T.
    • Gynecol Oncol. 2022 Oct 14:S0090-8258(22)01881-9. doi: 10.1016/j.ygyno.2022.10.008. Epub ahead of print.
    • An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
    • Breen KE, Katona BW, Catchings A, Ranganathan M, Marcell V, Latham A, Yurgelun MB, Stadler ZK.
    • Genet Med. 2022 Oct 12:S1098-3600(22)00918-2. doi: 10.1016/j.gim.2022.08.027. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • A novel germline mutation of TP53 with breast cancer diagnosed as Li-Fraumeni syndrome.
    • Kai M, Kubo M, Shikada S, Hayashi S, Morisaki T, Yamada M, Takao Y, Shimazaki A, Harada Y, Kaneshiro K, Mizuuchi Y, Shindo K, Nakamura M.
    • Surg Case Rep. 2022 Oct 11;8(1):197. doi: 10.1186/s40792-022-01546-y.
    • Ovarian Cancer Therapy: Homologous Recombination Deficiency as a Predictive Biomarker of Response to PARP Inhibitors.
    • Miller RE, Elyashiv O, El-Shakankery KH, Ledermann JA.
    • Onco Targets Ther. 2022 Oct 4;15:1105-1117. doi: 10.2147/OTT.S272199.
    • Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
    • DeVries AA, Dennis J, Tyrer JP, Peng PC, Coetzee SG, Reyes AL, Plummer JT, Davis BD, Chen SS, Dezem FS, Aben KKH, Anton-Culver H, Antonenkova NN, Beckmann MW, Beeghly-Fadiel A, Berchuck A, Bogdanova NV, Bogdanova-Markov N, Brenton JD, Butzow R, Campbell I, Chang-Claude J, Chenevix-Trench G, Cook LS, DeFazio A, Doherty JA, Dörk T, Eccles DM, Eliassen AH, Fasching PA, Fortner RT, Giles GG, Goode EL, Goodman MT, Gronwald J; OPAL Study Group; AOCS Group, Håkansson N, Hildebrandt MAT, Huff C, Huntsman DG, Jensen A, Kar S, Karlan BY, Khusnutdinova EK, Kiemeney LA, Kjaer SK, Kupryjanczyk J, Labrie M, Lambrechts D, Le ND, Lubinski J, May T, Menon U, Milne RL, Modugno F, Monteiro AN, Moysich KB, Odunsi K, Olsson H, Pearce CL, Pejovic T, Ramus SJ, Riboli E, Riggan MJ, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Sieh W, Song H, Sutphen R, Terry KL, Thompson PJ, Titus L, Tworoger SS, Van Nieuwenhuysen E, Edwards DV, Webb PM, Wentzensen N, Whittemore AS, Wolk A, Wu AH, Ziogas A, Freedman ML, Lawrenson K, Pharoah PDP, Easton DF, Gayther SA, Jones MR.
    • J Natl Cancer Inst. 2022 Oct 10:djac160. doi: 10.1093/jnci/djac160. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Optical genome mapping identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample.
    • Shim Y, Lee J, Seo J, Park CK, Shin S, Han H, Lee ST, Choi JR, Chung BH, Choi YD.
    • Cancer Cell Int. 2022 Oct 8;22(1):306. doi: 10.1186/s12935-022-02728-2.
    • Management of ovarian and breast cancer risk in non-BRCA HBOC pathogenic variant carriers in a large California health care system.
    • Powell CB, Laurent C, Garcia C, Hoodfar E, Karlea A, Kobelka C, Lee J, Roh J, Kushi LH.
    • Gynecol Oncol. 2022 Oct 8:S0090-8258(22)01857-1. doi: 10.1016/j.ygyno.2022.10.001. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.
    • Sanders BE, Wolsky R, Doughty ES, Wells KL, Ghosh D, Ku L, Pressey JG, Bitler BB, Brubaker LW.
    • Gynecol Oncol Rep. 2022 Oct 6 [eCollection 2022 Dec];44:101077. doi: 10.1016/j.gore.2022.101077.
    • Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction.
    • Li S, MacInnis RJ, Lee A, Nguyen-Dumont T, Dorling L, Carvalho S, Dite GS, Shah M, Luccarini C, Wang Q, Milne RL, Jenkins MA, Giles GG, Dunning AM, Pharoah PDP, Southey MC, Easton DF, Hopper JL, Antoniou AC.
    • Am J Hum Genet. 2022 Oct 6;109(10):1777-1788. doi: 10.1016/j.ajhg.2022.09.006.

    Research news: Breast Cancer Risk Contributors, Remaining Gaps Found With Familial Analyses. (GenomeWeb)

    • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
    • Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A, Miller A, Montagna M, Moserle L, Mouret-Fourme E, Musgrave H, Nambot S, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nguyen-Dumont T, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Osorio A, Ott CE, Park SK, Parsons MT, Pedersen IS, Peixoto A, Perez-Segura P, Peterlongo P, Pocza T, Radice P, Ramser J, Rantala J, Rodriguez GC, Rønlund K, Rosenberg EH, Rossing M, Schmutzler RK, Shah PD, Sharif S, Sharma P, Side LE, Simard J, Singer CF, Snape K, Steinemann D, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Trainer AH, Tripathi V, Tung N, van Engelen K, van Rensburg EJ, Vega A, Viel A, Walker L, Weitzel JN, Wevers MR, Chenevix-Trench G, Spurdle AB, Antoniou AC, Walker LC.
    • Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6.
  • LitAlert ~~ GeneLit.com

    • Six Case Reports of NTHL1-Associated Tumor Syndrome Further Support it as a Multi-Tumor Predisposition Syndrome.
    • Weatherill CB, Burke SA, Haskins CG, Berry DK, Homer JP, Demeure MJ, Darabi S.
    • Clin Genet. 2022 Oct 4. doi: 10.1111/cge.14242. Epub ahead of print.
    • Case report
    • Genodermatoses – Opportunities for Early Detection and Cancer Prevention.
    • Carley H, Kulkarni A.
    • Curr Genet Med Rep. 2022 Oct 4:1-13. doi: 10.1007/s40142-022-00203-y. Epub ahead of print.
    • Rucaparib Meets rPFS End Point in BRCA/ATM-Mutated mCRPC.
    • Ryan C.
    • OncLive. 2022 Oct 3.

    Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2022 Oct 5.)