LitAlert ~~ GeneLit.com

    • Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
    • Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Blout Zawatsky CL, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC.
    • JAMA Oncol. 2022 Apr 21. doi: 10.1001/jamaoncol.2022.0373. Epub ahead of print.

    Commentary:

    A Phenome-Wide Association Study and the Discovery of a New Clinical Spectrum of Hereditary Cancer Genes.

    • Ipilimumab/Nivolumab Therapy in Patients With Metastatic Pancreatic or Biliary Cancer With Homologous Recombination Deficiency Pathogenic Germline Variants.
    • Terrero G, Datta J, Dennison J, Sussman DA, Lohse I, Merchant NB, Hosein PJ.
    • JAMA Oncol. 2022 Apr 21. doi: 10.1001/jamaoncol.2022.0611. Epub ahead of print.
    • Pancreatic Ductal Carcinoma Risk Associated with Hereditary Cancer-Risk Genes.
    • Gardiner A, Kidd J, Elias MC, Young K, Mabey B, Taherian N, Cummings S, Malafa M, Rosenthal E, Permuth JB.
    • J Natl Cancer Inst. 2022 Apr 21:djac069. doi: 10.1093/jnci/djac069. Epub ahead of print.
    • Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
    • Hu L, Sun J, Li Z, Qu Z, Liu Y, Wan Q, Liu J, Ding X, Zang F, Zhang J, Yao L, Xu Y, Wang Y, Xie Y.
    • NPJ Breast Cancer. 2022 Apr 21;8(1):52. doi: 10.1038/s41523-022-00417-x.
    • Olaparib-induced cutaneous side effects in a patient with recurrent ovarian cancer.
    • Gou R, Horikawa N, Kosaka K.
    • BMJ Case Rep. 2022 Apr 20;15(4):e249177. doi: 10.1136/bcr-2022-249177.
    • Case report
    • MAPK pathway genetic alterations are associated with prolonged overall survival in low-grade serous ovarian carcinoma.
    • Manning-Geist B, Gordhandas S, Liu YL, Zhou Q, Iasonos A, Da Cruz Paula A, Mandelker D, Long Roche K, Zivanovic O, Maio A, Kemel Y, Chi DS, O'Cearbhaill RE, Aghajanian C, Weigelt B, Chui MH, Grisham RN.
    • Clin Cancer Res. 2022 Apr 20:clincanres.4183.2021. doi: 10.1158/1078-0432.CCR-21-4183. Epub ahead of print.
    • Common Variant in ALDH2 Modifies the Risk of Breast Cancer Among Carriers of the p.K3326* Variant in BRCA2.
    • Kluzniak W, Szymiczek A, Rodrigue A, Wokolorczyk D, Rusak B, Stempa K, Huzarski T, Gronwald J, Lubinski J, Zamani N, Zhang S, Masson JY, Narod SA; Polish Hereditary Breast Cancer Consortium, Cybulski C, Akbari MR.
    • JCO Precis Oncol. 2022 Apr [20];6:e2100450. doi: 10.1200/PO.21.00450.
    • Pan-cancer prognostic genetic mutations and clinicopathological factors associated with survival outcomes: a systematic review.
    • Kaubryte J, Lai AG.
    • NPJ Precis Oncol. 2022 Apr 20;6(1):27. doi: 10.1038/s41698-022-00269-5.
    • Development of a clinical polygenic risk score assay and reporting workflow.
    • Hao L, Kraft P, Berriz GF, Hynes ED, Koch C, Korategere V Kumar P, Parpattedar SS, Steeves M, Yu W, Antwi AA, Brunette CA, Danowski M, Gala MK, Green RC, Jones NE, Lewis ACF, Lubitz SA, Natarajan P, Vassy JL, Lebo MS.
    • Nat Med. 2022 Apr 18. doi: 10.1038/s41591-022-01767-6. Epub ahead of print.

    Research news: Clinical Polygenic Risk Assay, Reporting Pipeline Shows Promise for Multiple Conditions. (GenomeWeb)

    Research news: New PRS for Six Common Diseases to Aid Patient, Physician Healthcare Decisions. (Inside Precision Medicine)