Category: Family History

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

    Related:

    •• Reply:

    Reply to: Comments on .

    •• 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.

    • LitAlert ~~ GeneLit.com

    • Molecular characteristics of Asian male BRCA-related cancers.
    • Kwong A, Ho CYS, Shin VY, Ng ATL, Chan TL, Ma ESK.
    • Breast Cancer Res Treat. 2023 Jan 13. doi: 10.1007/s10549-022-06651-y. Epub ahead of print.

    • Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
    • Cummings S, Alfonso A, Hughes E, Kucera M, Mabey B, Singh N, Eng C.
    • JCO Precis Oncol. 2023 Jan;7:e2200415. doi: 10.1200/PO.22.00415.

    • 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

    • A radiological complete response to pembrolizumab in a patient with metastatic upper urinary tract urothelial cancer and Lynch syndrome.
    • Oki R, Urasaki T, Ueki A, Inamura K, Komai Y, Takahashi S, Yonese J, Yuasa T.
    • IJU Case Rep. 2022 Oct 28 [eCollection 2023 Jan];6(1):33-36. doi: 10.1002/iju5.12542.

    • Family History of Prostate Cancer and Survival Outcomes in the UK Genetic Prostate Cancer Study.
    • Brook MN, Ní Raghallaigh H, Govindasami K, Dadaev T, Rageevakumar R, Keating D, Hussain N, Osborne A, Lophatananon A; UKGPCS Collaborators; Muir KR, Kote-Jarai Z, Eeles RA.
    • Eur Urol. 2022 Dec 15:S0302-2838(22)02838-X. doi: 10.1016/j.eururo.2022.11.019. Epub ahead of print.

    • Missed opportunities in the real-world genetic testing in BRCA gene variant carriers with cancers meeting NCCN criteria.
    • Lee SS, Rajeev P, Finning S, Oh C, Pothuri B.
    • Gynecol Oncol. 2023 Jan 5;170:32-37. doi: 10.1016/j.ygyno.2022.12.015. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Promoters of BRCA testing under insurance coverage for non-metastatic breast cancer patients in Japan: a retrospective cohort study.
    • Taji T, Odan N, Kataoka Y, Ikeda M, Yamaguchi A, Suzuki E, Suwa H.
    • Breast Cancer. 2022 Dec 22. doi: 10.1007/s12282-022-01424-3. Epub ahead of print.

    • Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?
    • Metcalfe KA, Narod SA, Eisen A, Poll A, Zamani N, McCready D, Cil TD, Wright FC, Lerner-Ellis J, McCuaig J, Graham T, Sun P, Akbari MR.
    • Cancer Med. 2022 Dec 21. doi: 10.1002/cam4.5515. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
    • Abdel-Razeq H, Al-Azzam K, Elemian S, Abu-Fares H, Abu Sheikha A, Bani Hani H, Bater R, Sharaf B, Heald B, Esplin ED, Nielsen SM, Alkyam M, Abujamous L, Al-Attary A.
    • Mol Genet Genomic Med. 2022 Dec 19:e2125. doi: 10.1002/mgg3.2125. Epub ahead of print.

    • Informational needs of individuals from BRCA-harboring families: a systematic review and content analysis.
    • Park SY, Kim Y, Kim S, Katapodi MC.
    • Genet Med. 2022 Dec 18:S1098-3600(22)01068-1. doi: 10.1016/j.gim.2022.100001. Epub ahead of print.

    • Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
    • Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch É, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaillé M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Léoné M, Limacher JM, Lortholary A, Luporsi É, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Noguès C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Augé A, Guénel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N, Lesueur F.
    • Eur J Cancer. 2022 Nov 13 [2023 Jan 1];179:76-86. doi: 10.1016/j.ejca.2022.11.007. Epub ahead of print.