Terms: = Sarcomas AND PALB2, ENSG00000083093, 79728
8 results:
1. Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA; Santiago KM; Maia JML; Costa FD; Formiga MN; Soares DCQ; Paixão D; Mello CAL; Costa CMLD; Rocha JCCD; Rivera B; Carraro DM; Torrezan GT
J Med Genet; 2023 Dec; 61(1):61-68. PubMed ID: 37536918
[TBL] [Abstract] [Full Text] [Related]
2. Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C; Faust U; Krauße L; Liebmann A; Abele M; Demidov G; Schütz L; Kelemen O; Pohle A; Gauß S; Sturm M; Roggia C; Streiter M; Buchert R; Armenau-Ebinger S; Nann D; Beschorner R; Handgretinger R; Ebinger M; Lang P; Holzer U; Skokowa J; Ossowski S; Haack TB; Mau-Holzmann UA; Dufke A; Riess O; Brecht IB
Eur J Hum Genet; 2023 Oct; 31(10):1139-1146. PubMed ID: 37507557
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3. Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in
Astiazaran-Symonds E; Graham C; Kim J; Tucker MA; Ingvar C; Helgadottir H; Pastorino L; van Doorn R; Sampson JN; Zhu B; Bruno W; Queirolo P; Fornarini G; Sciallero S; Carter B; Hicks B; Hutchinson A; Jones K; Stewart DR; Chanock SJ; Freedman ND; Landi MT; Höiom V; Puig S; Gruis N; Yang XR; Ghiorzo P; Goldstein AM
JCO Precis Oncol; 2022 Nov; 6():e2200145. PubMed ID: 36409970
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4. Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D.
Graffeo R; Rana HQ; Conforti F; Bonanni B; Cardoso MJ; Paluch-Shimon S; Pagani O; Goldhirsch A; Partridge AH; Lambertini M; Garber JE
Breast; 2022 Oct; 65():32-40. PubMed ID: 35772246
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5. Association of Family Cancer History With Pathogenic Variants in Specific Breast Cancer Susceptibility Genes.
Kurian AW; Abrahamse P; Ward KC; Hamilton AS; Deapen D; Berek JS; Hoang L; Yussuf A; Dolinsky J; Brown K; Slavin T; Hofer TP; Katz SJ
JCO Precis Oncol; 2021; 5():. PubMed ID: 34977446
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6. A rare palb2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy.
Beer A; Beck R; Schedel A; von Bonin M; Meinel J; Friedrich UA; Menzel M; Suttorp M; Brenner S; Fitze G; Lange B; Knöfler R; Hauer J; Auer F
Mol Genet Genomic Med; 2021 Sep; 9(9):e1746. PubMed ID: 34382369
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7. Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J; Gianferante M; Karyadi DM; Hartley SW; Frone MN; Luo W; Robison LL; Armstrong GT; Bhatia S; Dean M; Yeager M; Zhu B; Song L; Sampson JN; Yasui Y; Leisenring WM; Brodie SA; de Andrade KC; Fortes FP; Goldstein AM; Khincha PP; Machiela MJ; McMaster ML; Nickerson ML; Oba L; Pemov A; Pinheiro M; Rotunno M; Santiago K; Wegman-Ostrosky T; Diver WR; Teras L; Freedman ND; Hicks BD; Zhu B; Wang M; Jones K; Hutchinson AA; Dagnall C; Savage SA; Tucker MA; Chanock SJ; Morton LM; Stewart DR; Mirabello L
JNCI Cancer Spectr; 2021 Apr; 5(2):. PubMed ID: 34308104
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8. Initial testing (stage 1) of the PARP inhibitor BMN 673 by the pediatric preclinical testing program: palb2 mutation predicts exceptional in vivo response to BMN 673.
Smith MA; Hampton OA; Reynolds CP; Kang MH; Maris JM; Gorlick R; Kolb EA; Lock R; Carol H; Keir ST; Wu J; Kurmasheva RT; Wheeler DA; Houghton PJ
Pediatr Blood Cancer; 2015 Jan; 62(1):91-8. PubMed ID: 25263539
[TBL] [Abstract] [Full Text] [Related]
