Category: Genetic Testing

LitAlert ~~ GeneLit.com

    • Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.
    • Velthuizen ME, van der Luijt RB, de Vries BJ, Koudijs MJ, Bleiker EMA, Ausems MGEM.
    • Hered Cancer Clin Pract. 2021 Jan 19;19:9. doi: 10.1186/s13053-021-00166-1.

    • A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.
    • Loza P, Irmejs A, Daneberga Z, Miklasevics E, Berga-Svitina E, Subatniece S, Maksimenko J, Trofimovics G, Tauvena E, Ukleikins S, Gardovskis J.
    • Hered Cancer Clin Pract. 2021 Jan 19;19:11. doi: 10.1186/s13053-021-00168-z.

    • LitAlert ~~ GeneLit.com

    • Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.
    • Liu Y, Wang H, Wang X, Liu J, Li J, Wang X, Zhang Y, Bai Z, Zhou Q, Wu Y, Shen Y, Weng X, Liu F, Guo J, Di L, Gires O, Zhang Z, Chen Y, Wang H.
    • J Hematol Oncol. 2021 Jan 18;14(1):18. doi: 10.1186/s13045-020-01010-0.

    • Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
    • Scott TM, Campbell IM, Hernandez-Garcia A, Lalani SR, Liu P, Shaw CA, Rosenfeld JA, Scott DA.
    • J Med Genet. 2021 Jan 18:jmedgenet-2020-107317. doi: 10.1136/jmedgenet-2020-107317. Epub ahead of print.
    • Case report

    • Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.
    • Lepkes L, Kayali M,, Blümcke B, Weber J, Suszynska M, Schmidt S, Borde J, Klonowska K, Wappenschmidt B, Hauke J, Kozlowski P, Schmutzler RK, Hahnen E, Ernst C.
    • Cancers (Basel). 2021 Jan 1;13(1):E118. doi: 10.3390/cancers13010118.

    • Update on the Role of Poly (ADP-Ribose) Polymerase Inhibitors in the DNA Repair-Deficient Pancreatic Cancers: A Narrative Review.
    • Kasi A, Al-Jumayli M, Park R, Baranda J, Sun W.
    • J Pancreat Cancer. 2020 Dec 4;6(1):107-115. doi: 10.1089/pancan.2020.0010.

    • LitAlert ~~ GeneLit.com

    • Performance of breast cancer polygenic risk scores in 760 female CHEK2 germline mutation carriers.
    • Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E.
    • J Natl Cancer Inst. 2020 Dec 29. pii: djaa203. doi: 10.1093/jnci/djaa203. [Epub ahead of print]

    • Concordance between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
    • Callens C, Vaur D, Soubeyran I, Rouleau E, Just PA, Guillerm E, Golmard L, Goardon N, Sevenet N, Cabaret O, Harter P, Gonzalez-Martin A, Fujiwara K, Cecere SC, Colombo N, Marth C, Vergote I, Maenpaa J, Pujade-Lauraine E, Coquard I.
    • J Natl Cancer Inst. 2020 Dec 29. pii: djaa193. doi: 10.1093/jnci/djaa193. [Epub ahead of print]

    • Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer.
    • Hodan R, Kingham K, Cotter K, Folkins AK, Kurian AW, Ford JM, Longacre T.
    • Cancer Med. 2020 Dec 25. doi: 10.1002/cam4.3688. Epub ahead of print.

    • Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB.
    • Wei J, Shi Z, Na R, Resurreccion WK, Wang CH, Duggan D, Zheng SL, Hulick PJ, Helfand BT, Xu J.
    • J Med Genet. 2020 Dec 21:jmedgenet-2020-107286. doi: 10.1136/jmedgenet-2020-107286. Epub ahead of print.

    • Motivations and barriers to pursue cancer genomic testing: a systematic review.
    • Smith-Uffen M, Bartley N, Davies G, Best M.
    • Patient Educ Couns. 2020 Dec 25:S0738-3991(20)306881. doi: 10.1016/j.pec.2020.12.024. Epub ahead of print.
    • Review

    • Cost effectiveness of whole population BRCA genetic screening for cancer prevention in Israel.
    • Michaan N, Leshno M, Safra T, Sonnenblick A, Laskov I, Grisaru D.
    • Cancer Prev Res (Phila). 2020 Dec 22:canprevres.0411.2020. doi: 10.1158/1940-6207.CAPR-20-0411. Epub ahead of print.

    • Globally rare BRCA2 variants with founder haplotypes in the South African population: Implications for point-of-care testing based on a single-institution BRCA1/2 next-generation sequencing study.
    • Oosthuizen J, Kotze MJ, Van Der Merwe NV, Myburgh EJ, Bester P, Van Der Merwe NC.
    • Front Oncol. 2020 Dec 23;10:619469. doi: 10.3389/fonc.2020.619469.