VUS – GeneLit

Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.
Kim JH, Park S, Park HS, Park JS, Lee ST, Kim SW, Lee JW, Lee MH, Park SK, Noh WC, Choi DH, Han W, Jung SH.
Sci Rep. 2021 Apr 19;11(1):8485. doi: 10.1038/s41598-021-87792-w.

PMID: 33875706
PubMed abstract

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Germline evaluation of patients undergoing tumor genomic profiling: An academic cancer center's experience with implementing a germline review protocol.
Stachowiak S, Jacquart A, Zimmermann MT, George B, Dong H, Geurts JL.
J Genet Couns. 2021 Mar 22. doi: 10.1002/jgc4.1392. Epub ahead of print.

Genetic Testing for Breast and Ovarian Cancer: What Has Changed and What Still Needs To Change?
Lyss AP.
Medscape. News & Perspective. 2021 Mar 8.

Research news
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Original research:

Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.

The BRCA1 c.788G > T (NM_007294.4) variant in a high grade serous ovarian cancer (HGSOC) patient: foods for thought.
De Paolis E, Pietragalla A, De Bonis M, Fagotti A, Urbani A, Scambia G, Minucci A.
Mol Biol Rep. 2021 Mar 3. doi: 10.1007/s11033-021-06243-x. Epub ahead of print.

Case report

Application of Multilayer Evidence for Annotation of C-Terminal BRCA2 Variants.
Butz H, Papp J, Bozsik A, Krokker L, Pócza T, Oláh E, Patócs A.
Cancers (Basel). 2021 Feb 20;13(4):E881. doi: 10.3390/cancers13040881.

Source abstract

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LitAlert ~~ GeneLit.com

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ.
Am J Hum Genet. 2021 Feb 19. pii: S0002-9297(21)00047-1. doi: 10.1016/j.ajhg.2021.02.005. Epub ahead of print.

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Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis.
Sandoval RL, Leite ACR, Barbalho DM, Assad DX, Barroso R, Polidorio N, Dos Anjos CH, de Miranda AD, Ferreira ACSM, Fernandes GDS, Achatz MI.
PLoS One. 2021 Feb 19;16(2):e0247363. doi: 10.1371/journal.pone.0247363.

PMID: 33606809
PubMed abstract

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Functional interrogation of DNA damage response variants with base editing screens.
Cuella-Martin R, Hayward SB, Fan X, Chen X, Huang JW, Taglialatela A, Leuzzi G, Zhao J, Rabadan R, Lu C, Shen Y, Ciccia A.
Cell. 2021 Feb 18;184(4):1081-1097.e19. doi: 10.1016/j.cell.2021.01.041.

Choose and stay on one out of two paths: distinction between clinical versus research genetic testing to identify cancer predisposition syndromes among patients with cancer.
Ripperger T, Evans D, Malkin D, Kratz CP.
Fam Cancer. 2021 Feb 12. doi: 10.1007/s10689-021-00228-2. Epub ahead of print.

PMID: 33576909
PubMed abstract

Letter, Commentary
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Cancer SIGVAR: A semi-automated interpretation tool for germline variants of hereditary cancer-related genes.
Li H, Liu S, Wang S, Zeng Q, Chen Y, Fang T, Zhang Y, Zhou Y, Zhang Y, Wang K, Yan Z, Qiang C, Xu M, Chai X, Yuan Y, Huang M, Zhang H, Xiong Y.
Hum Mutat. 2021 Feb 10. doi: 10.1002/humu.24177. Epub ahead of print.

Gene Screenings Hold Disease Clues, but Unexplained Anomalies Often Raise Fears.
Bennett C.
Kaiser Health News. 2021 Feb 9.

Press
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Press: Ambiguous genetic test results can be unsettling. Worse, they can lead to needless surgeries. (Washington Post)

Press: My Gene Counsel Quoted in Washington Post and Kaiser Health News. (My Gene Counsel)

Time Trends in Receipt of Germline Genetic Testing and Results for Women Diagnosed With Breast Cancer or Ovarian Cancer, 2012-2019.
Kurian AW, Ward KC, Abrahamse P, Bondarenko I, Hamilton AS, Deapen D, Morrow M, Berek JS, Hofer TP, Katz SJ.
J Clin Oncol. 2021 Feb 9:JCO2002785. doi: 10.1200/JCO.20.02785. Epub ahead of print.