Category: VUS

LitAlert ~~ GeneLit.com

    • Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer.
    • Hamilton JG, Symecko H, Spielman K, Breen K, Mueller R, Catchings A, Trottier M, Salo-Mullen EE, Shah I, Arutyunova A, Batson M, Gebert R, Pundock S, Schofield E, Offit K, Stadler ZK, Cadoo K, Carlo MI, Narayan V, Reiss KA, Robson ME, Domchek SM.
    • Genet Med. 2021 Jul 13. doi: 10.1038/s41436-021-01262-2. Epub ahead of print.

    • Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care
    • Berrios C, Hurley EA, Willig L, Thiffault I, Saunders C, Pastinen T, Goggin K, Farrow E.
    • Genet Med. 2021 Jul 13. doi: 10.1038/s41436-021-01267-x. Epub ahead of print.

    • Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation.
    • Majumder MA, Blank ML, Geary J, Bollinger JM, Guerrini CJ, Robinson JO, Canfield I, Cook-Deegan R, McGuire AL.
    • J Pers Med. 2021 Jul 8;11(7):646. doi: 10.3390/jpm11070646.

    • Mutations in BRCA-related breast and ovarian cancer in the South African Indian population: A descriptive study.
    • Combrink HM, Oosthuizen J, Visser B, Chabilal N, Buccimazza I, Foulkes WD, van der Merwe NC.
    • Cancer Genet. 2021 Jun 15;258-259:1-6. doi: 10.1016/j.cancergen.2021.06.002. Epub ahead of print.

    • 5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
    • Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French COVAR Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E.
    • Cancers (Basel). 2021 Jun 25;13(13):3171. doi: 10.3390/cancers13133171.

    • Patterns and Prevalence of BRCA1 and BRCA2 Germline Mutations Among Patients with Triple-Negative Breast Cancer: Regional Perspectives.
    • Abdel-Razeq H, Tamimi F, Abujamous L, Edaily S, Abunasser M, Bater R, Salama O.
    • Cancer Manag Res. 2021 Jun 9;13:4597-4604. doi: 10.2147/CMAR.S316470.

    • Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study.
    • Gupta S, Rajappa S, Advani S, Agarwal A, Aggarwal S, Goswami C, Palanki SD, Arya D, Patil S, Kodagali R.
    • JCO Glob Oncol. 2021 Jun;7:849-861. doi: 10.1200/GO.21.00051.

    • LitAlert ~~ GeneLit.com

    • [A concise procedure for the interpretation of BRCA1/2 variants].
    • Wu HW, Lu JL, Lyu XS, Dong L, Yao QL, Li J, Liu XY, Liang ZY.
    • Zhonghua Bing Li Xue Za Zhi. 2021 Jun 8;50(6):560-564. Chinese. doi: 10.3760/cma.j.cn112151-20210405-00260.
    • [Article in Chinese]

    • [Chinese expert consensus on BRCA1/2 variant interpretation(2021 version)].
    • Chinese Society of Pathology; Chinese Pathology Quality Control Center.
    • Zhonghua Bing Li Xue Za Zhi. 2021 Jun 8;50(6):565-571. Chinese. doi: 10.3760/cma.j.cn112151-20201027-00809.
    • [Article in Chinese]

    • Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
    • Zuntini R, Bonora E, Pradella LM, Amato LB, Vidone M, De Fanti S, Catucci I, Cortesi L, Medici V, Ferrari S, Gasparre G, Peterlongo P, Sazzini M, Turchetti D.
    • Int J Mol Sci. 2021 May 29;22(11):5832. doi: 10.3390/ijms22115832.

    • Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.
    • Hong J, Kim JH, Ahn SH, Gu H, Chang S, Lee W, Kim DY, Chun S, Min WK.
    • Genes (Basel). 2021 May 26;12(6):810. doi: 10.3390/genes12060810.

    • Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.
    • Jimenez-Sainz J, Jensen RB.
    • Genes (Basel). 2021 May 20;12(5):780. doi: 10.3390/genes12050780.

    • LitAlert ~~ GeneLit.com

    • Comprehensive analysis of DNA damage repair genes reveals pathogenic variants beyond BRCA and suggests the need for extensive genetic testing in pancreatic cancer.
    • Rapposelli IG, Zampiga V, Cangini I, Arcangeli V, Ravegnani M, Valgiusti M, Pini S, Tamberi S, Bartolini G, Passardi A, Martinelli G, Calistri D, Frassineti GL, Falcini F, Danesi R.
    • BMC Cancer. 2021 May 26;21(1):611. doi: 10.1186/s12885-021-08368-5.

    • Prevalence and spectrum of germline BRCA1 and BRCA2 variants of uncertain significance in breast/ovarian cancer: mysterious signals from the genome.
    • Fanale D, Fiorino A, Incorvaia L, Dimino A, Filorizzo C, BONO M, Cancelliere D, Calo' V, Brando C, Corsini LR, Sciacchitano R, Magrin L, Pivetti A, Madonia G, Cucinella A, Badalamenti G, Russo A, Bazan V.
    • Front Oncol. 2021 May 25;10:682445. doi: 10.3389/fonc.2021.682445.