Category: Family History

    • 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.

    • LitAlert ~~ GeneLit.com

    • Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
    • Kotaniemi-Talonen L, Pukkala E, Aittomäki K, Auranen A.
    • Acta Obstet Gynecol Scand. 2023 Jan 16. doi: 10.1111/aogs.14504. Epub ahead of print.

    • Comments on .
    • Kratz CP, Evans DG.
    • Int J Cancer. 2023 Jan 16. doi: 10.1002/ijc.34432. Epub ahead of print.
    • Letter. Commentary

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    •• Original research:

    The CHK2 kinase is recurrently mutated and functionally impaired in the germline of pediatric cancer patients.

    • Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.
    • Vanderwal A, Lewis J, Basil J, Atzinger C, Widmeyer K.
    • J Genet Couns. 2023 Jan 15. doi: 10.1002/jgc4.1674. Epub ahead of print.

    • A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
    • Soleimani T, Bourdon C, Davis J, Fortes T.
    • Clin Case Rep. 2023 Jan 11 [eCollection 2023 Jan];11(1):e6820. doi: 10.1002/ccr3.6820.

    • LitAlert ~~ GeneLit.com

    • Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
    • Kotaniemi-Talonen L, Pukkala E, Aittomäki K, Auranen A.
    • Acta Obstet Gynecol Scand. 2023 Jan 16. doi: 10.1111/aogs.14504. Epub ahead of print.

    • Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.
    • Vanderwal A, Lewis J, Basil J, Atzinger C, Widmeyer K.
    • J Genet Couns. 2023 Jan 15. doi: 10.1002/jgc4.1674. Epub ahead of print.

    • A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer.
    • Soleimani T, Bourdon C, Davis J, Fortes T.
    • Clin Case Rep. 2023 Jan 11 [eCollection 2023 Jan];11(1):e6820. doi: 10.1002/ccr3.6820.

    • LitAlert ~~ GeneLit.com

    • Use of exogenous hormones in those at increased risk for breast cancer: contraceptive and menopausal hormones in gene carriers and other high-risk patients.
    • Pederson HJ, Batur P.
    • Menopause. 2023 Jan 10. doi: 10.1097/GME.0000000000002136. Epub ahead of print.
    • Review

    • January 2023: Awareness of genetic testing – results and analysis from the 2020 Health Information National Trends Survey.
    • Mechanic L, Helzlsouer K.
    • Genet Med. GenePOD. 2023 Jan 9.

    Related:

    •• Original research:

    Awareness and use of genetic testing: An analysis of the Health Information National Trends Survey 2020.

    • Genetic Testing in the Latinx community: Impact of acculturation and provider relationships.
    • Ioffe YJ, Hong L, Joachim-Célestin M, Soret C, Montgomery S, Unternaehrer JJ.
    • Gynecol Oncol. 2022 Dec 26;169:125-130. doi: 10.1016/j.ygyno.2022.12.001. Epub ahead of print.

    • Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
    • Olaya J, Sanjuan J, Torres-Lopez D, Olaya L, Gutierrez-Vargas M, Olaya G, Olaya JD.
    • Cureus. 2022 Dec 6;14(12):e32257. doi: 10.7759/cureus.32257.