LitAlert ~~ GeneLit.com

    • High detection rate from genetic testing in BRCA-negative women with familial epithelial ovarian cancer.
    • Flaum N, Crosbie EJ, Edmondson R, Woodward ER, Lalloo F, Smith MJ, Schlecht H, Evans DG.
    • Genet Med. 2022 Sep 28:S1098-3600(22)00913-3. doi: 10.1016/j.gim.2022.08.022. Epub ahead of print.
    • Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome.
    • Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, Haavind MT, 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.
    • J Natl Cancer Inst. 2022 Sep 28:djac188. doi: 10.1093/jnci/djac188. Epub ahead of print.
    • Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.
    • Nepomuceno TC, Dos Santos APP, Fernandes VC, Elias ABR, Gomes TT, Suarez-Kurtz G, Iversen ES Jr, Couch FJ, Monteiro ANA, Carvalho MA.
    • Sci Rep. 2022 Sep 28;12(1):16203. doi: 10.1038/s41598-022-20500-4.
    • Detection of Breast Cancer Lump and BRCA1/2 Genetic Mutation under Deep Learning.
    • Miao Y, Tang S.
    • Comput Intell Neurosci. 2022 Sep 19;2022:9591781. doi: 10.1155/2022/9591781.
  • LitAlert ~~ GeneLit.com

    • Mutation Patterns in Portuguese Families with Hereditary Breast and Ovarian Cancer Syndrome.
    • Vicente R, Costa DA, Vitorino M, Duarte Mendes A, Santos C, Fontes-Sousa M.
    • Cancers (Basel). 2022 Sep 28;14(19):4717. doi: 10.3390/cancers14194717.
    • A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
    • Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, del Carmen Soriano M, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A.
    • Cancers (Basel). 2022 Sep 28;14(19):4738. doi: 10.3390/cancers14194738.
    • Who Should Have Multigene Germline Testing for Hereditary Cancer?
    • Savage SA.
    • J Clin Oncol. 2022 Sep 27:JCO2201691. doi: 10.1200/JCO.22.01691. Epub ahead of print.

    Original research:

    Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment.

    • Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.
    • Bonnet E, Haddad V, Quesada S, Baffert KA, Lardy-Cléaud A, Treilleux I, Pissaloux D, Attignon V, Wang Q, Buisson A, Heudel PE, Bachelot T, Dufresne A, Eberst L, Toussaint P, Bonadona V, Lasset C, Viari A, Sohier E, Paindavoine S, Combaret V, Pérol D, Ray-Coquard I, Blay JY, Trédan O.
    • J Pers Med. 2022 Sep 27;12(10):1595. doi: 10.3390/jpm12101595.
    • Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients.
    • Culver JO, Freiberg Y, Ricker C, Comeaux JG, Chang EY, Banerjee V, Sturgeon D, Solomon I, Kagey J, Dobre MG, Carey J, Carr A, Cho S, Lu J, Kang IM, Patel K, Terando A, Ye JC, Li M, Lerman C, Spicer D, Nelson M.
    • Ann Surg Oncol. 2022 Sep 26. doi: 10.1245/s10434-022-12595-w. Epub ahead of print.
    • Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel.
    • Salvati A, Carnevali I, Alexandrova E, Facchi S, Ronchi S, Libera L, Sahnane N, Memoli D, Lamberti J, Amabile S, Pepe S, Tarallo R, Sessa F, Weisz A, Tibiletti MG, Rizzo F.
    • Exp Mol Pathol. 2022 Sep 20;128:104833. doi: 10.1016/j.yexmp.2022.104833. Epub ahead of print.
    • Characterization of lung cancers in patients with BRCA germline variants: A multicenter series.
    • Sanchis-Borja M, Fallet V, Fabre E, Wislez M, Culine S, Zalcman G, Spano JP, Buffet NC, Coulet F, Benusiglio PR, Cadranel J.
    • Lung Cancer. 2022 Sep 6;173:67-70. doi: 10.1016/j.lungcan.2022.09.002. Epub ahead of print.
    • Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing.
    • Wang X, Kaneko K, Arakawa H, Habano E, Omi M, Nakashima E, Kawachi H, Tonooka A, Omatsu K, Nomura H, Yunokawa M, Kanao H, Takahashi S, Nakajima T, Ueki A.
    • Case Rep Oncol. 2022 Aug 31;15(2):792-797. doi: 10.1159/000525941.
  • LitAlert ~~ GeneLit.com

    • Survival outcomes of metastatic breast cancer patients by germline BRCA1/2 status in a large multicenter real-world database.
    • Mailliez A, D’Hondt V, Lusque A, Caron O, Cabel L, Goncalves A, Debled M, Gladieff L, Ferrero JM, Petit T, Mouret-Reynier MA, Eymard JC, Levy C, Uwer L, Leheurteur M, Desmoulins I, Bachelot T, Frenel JS, De la Motte Rouge T, Simon G, Jacot W, Delaloge S.
    • Int J Cancer. 2022 Sep 26. doi: 10.1002/ijc.34304. Epub ahead of print.
    • ATM c.7570G>C is a high-risk allele for breast cancer.
    • Kankuri-Tammilehto M, Tervasmäki A, Kraatari-Tiri M, Rahikkala E, Pylkäs K, Kuismin O.
    • Int J Cancer. 2022 Sep 26. doi: 10.1002/ijc.34305. Epub ahead of print.
    • Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.
    • Lee A, Mavaddat N, Cunningham A, Carver T, Ficorella L, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Devilee P, Zadnik V, Jürgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Pharoah PPD, Easton DF, Antoniou AC.
    • J Med Genet. 2022 Sep 26:jmg-2022-108471. doi: 10.1136/jmg-2022-108471. Epub ahead of print.
    • Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study.
    • Yang X, Eriksson M, Czene K, Lee A, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat N, Simard J, Schmidt MK, Easton DF, Hall P, Antoniou AC.
    • J Med Genet. 2022 Sep 26:jmg-2022-108806. doi: 10.1136/jmg-2022-108806. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Breast cancer polygenic risk scores are associated with short-term risk of poor prognosis breast cancer.
    • McCarthy AM, Manning AK, Hsu S, Welch M, Moy B, Lehman CD, Armstrong K.
    • Breast Cancer Res Treat. 2022 Sep 22. doi: 10.1007/s10549-022-06739-5. Epub ahead of print.
    • Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.
    • Bychkovsky BL, Agaoglu NB, Horton C, Zhou J, Yussuf A, Hemyari P, Richardson ME, Young C, LaDuca H, McGuinness DL, Scheib R, Garber JE, Rana HQ.
    • JAMA Oncol. 2022 Sep 22. doi: 10.1001/jamaoncol.2022.4071. Epub ahead of print.
    • Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
    • Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P.
    • J Med Genet. 2022 Sep 22:jmedgenet-2022-108502. doi: 10.1136/jmg-2022-108502. Epub ahead of print.
    • Características clínicas de pacientes con Cáncer de Mama y / o Cáncer de Ovario con mutaciones en los genes BRCA1 y BRCA2 en Córdoba, Argentina. [Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina.]
    • Martin CA, Suárez Villasmil L, Sembaj A, Gomez Balangione F, Zunino S, Montes CDC, Borello A, Del Castillo A, Zeballos M, Rossi NT.
    • Rev Fac Cien Med Univ Nac Cordoba. 2022 Sep 16;79(3):228-234. Spanish. doi: 10.31053/1853.0605.v79.n3.34533.
  • LitAlert ~~ GeneLit.com

    • Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
    • D’Elia G, Caliendo G, Tzioni MM, Albanese L, Passariello L, Molinari AM, Vietri MT.
    • Genes (Basel). 2022 Sep 21;13(10):1692. doi: 10.3390/genes13101692.
    • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes.
    • Mossanen M, Nassar AH, Stokes SM, Martinez-Chanza N, Kumar V, Nuzzo PV, Kwiatkowski DJ, Garber JE, Curran C, Freeman D, Preston M, Mouw KW, Kibel A, Choueiri TK, Sonpavde G, Rana HQ.
    • Clin Genitourin Cancer. 2022 Aug 29:S1558-7673(22)00177-X. doi: 10.1016/j.clgc.2022.08.009. Epub ahead of print.
  • LitAlert ~~ GeneLit.com

    • Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
    • Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration, Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C.
    • Ann Oncol. 2022 Sep 16:S0923-7534(22)04143-6. doi: 10.1016/j.annonc.2022.09.152. Epub ahead of print.
    • Liquid Biopsy Revealed HBOC Pedigree and Led to Medical Management Among the Relatives.
    • Ogawa C, Hirasawa A, Sogawa R, Hasuoka K, Tomida S, Futagawa M, Urakawa Y, Kochi M, Yamamoto H, Nakamura K, Masuyama H.
    • Acta Med Okayama. 2022 Aug;76(4):479-483. doi: 10.18926/AMO/63908.
  • LitAlert ~~ GeneLit.com

    • Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
    • Valenzuela-Palomo A, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sánchez A, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Gómez-Barrero S, de la Hoya M, Velasco-Sampedro EA.
    • Cancers (Basel). 2022 Sep 19;14(18):4541. doi: 10.3390/cancers14184541.
    • Mutation of breast cancer susceptibility genes increases cerebral microbleeds: A pilot study.
    • Pope B, Wolcott Z, Castillo M, Jin J, Wong KH, Havenon A, Yaghi S, Goldstein ED.
    • J Stroke Cerebrovasc Dis. 2022 Sep 15;31(11):106729. doi: 10.1016/j.jstrokecerebrovasdis.2022.106729. Epub ahead of print.
    • Role of genetic testing in hepatic, pancreatic, and biliary cancers.
    • Hewitt DB, Aziz H, Brown ZJ, Pawlik TM.
    • Surg Oncol. 2022 Sep 5;44:101844. doi: 10.1016/j.suronc.2022.101844. Epub ahead of print.
    • Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
    • Truong H, Breen K, Nandakumar S, Sjoberg DD, Kemel Y, Mehta N, Lenis AT, Reisz PA, Carruthers J, Benfante N, Joseph V, Khurram A, Gopalan A, Fine SW, Reuter VE, Vickers AJ, Birsoy O, Liu Y, Walsh M, Latham A, Mandelker D, Stadler ZK, Pietzak E, Ehdaie B, Touijer KA, Laudone VP, Slovin SF, Autio KA, Danila DC, Rathkopf DE, Eastham JA, Chen Y, Morris MJ, Offit K, Solit DB, Scher HI, Abida W, Robson ME, Carlo MI.
    • Eur Urol. 2022 Sep 14:S0302-2838(22)02619-7. doi: 10.1016/j.eururo.2022.08.028. Epub ahead of print.