Category: Family History

    • Diagnosis, Management, and Surveillance for Patients with PALB2, CHEK2, and ATM Gene Mutations.
    • Fencer MG, Krupa KA, Bleich GC, Grumet S, Eladoumikdachi FG, Kumar S, Kowzun MJ, Potdevin LB.
    • Clin Breast Cancer. 2023 Feb 15:S1526-8209(23)00034-4. doi: 10.1016/j.clbc.2023.02.004. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
    • D’Elia G, Caliendo G, Passariello L, Albanese L, Makker J, Molinari AM, Vietri MT.
    • Genes (Basel). 2023 Feb 8;14(2):428. doi: 10.3390/genes14020428.

    • Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.
    • Alghanim HM, Eltawel M, Alhaidari AI, Alobaid MM, Moghairi AM, Sufiani F, Ahmad N.
    • Pediatr Hematol Oncol. 2023 Feb 2:1-8. doi: 10.1080/08880018.2022.2154417. Epub ahead of print.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Validation of a breast cancer risk prediction model based on the key risk factors: family history, mammographic density and polygenic risk.
    • Allman R, Mu Y, Dite GS, Spaeth E, Hopper JL, Rosner BA.
    • Breast Cancer Res Treat. 2023 Feb 7. doi: 10.1007/s10549-022-06834-7. Epub ahead of print.

    • Beyond BRCA: Patterns of risk-reducing surgery for non-BRCA, homologous recombination repair pathway gene variant carriers.
    • Lee SS, Karpel HC, Oh C, Smith J, Pothuri B.
    • Gynecol Oncol. 2023 Jan 30;170:234-240. doi: 10.1016/j.ygyno.2022.12.012. Epub ahead of print.

    • Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
    • Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
    • Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.

    • Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
    • Carrera S, Rodríguez-Martínez AB, Garin I, Sarasola E, Martínez C, Maortua H, Callejo A, Ruiz de Lobera A, Muñoz A, Miñambres N, Jiménez-Labaig P.
    • Hered Cancer Clin Pract. 2023 Jan 28;21(1):2. doi: 10.1186/s13053-023-00246-4.

    • Predicting Openness of Communication in Families With Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis.
    • Baroutsou V, Cerqueira Gonzalez Pena R, Schweighoffer R, Caiata-Zufferey M, Kim S, Hesse-Biber S, Ciorba FM, Lauer G, Katapodi M; CASCADE Consortium.
    • JMIR Form Res. 2023 Jan 19;7:e38399. doi: 10.2196/38399.

    • LitAlert ~~ GeneLit.com

    • Histopathological results of radical prostatectomy specimen of men younger than 50 years of age at the time of surgery: possible implications for prostate cancer screening programs?
    • Mehring G, Tilki D, Heinzer H, Steuber T, Pose RM, Thederan I, Budäus L, Salomon G, Haese A, Michl U, Maurer T, Huland H, Graefen M, Isbarn H.
    • World J Urol. 2023 Jan 19. doi: 10.1007/s00345-023-04287-1. Epub ahead of print.

    • Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.
    • Abdel-Razeq H, Abujamous L, Al-Azzam K, Abu-Fares H, Bani Hani H, Alkyam M, Sharaf B, Elemian S, Tamimi F, Abuhijla F, Edaily S, Salama O, Abdulelah H, Daoud R, Abubaker M, Al-Atary A.
    • Breast Cancer (Dove Med Press). 2023 Jan 13;15:1-10. doi: 10.2147/BCTT.S394092.