Category: All HBOC

LitAlert ~~ GeneLit.com

    • Influential Factors on Risk Reduction Mastectomy in a High-Risk Breast Cancer Population with Genetic Predispositions.
    • Wei G, Kumar A, Lee MC, Wang X.
    • Clin Breast Cancer. 2021 Jan 19:S1526-8209(21)00020-3. doi: 10.1016/j.clbc.2021.01.008. Epub ahead of print.

    • Plasma metabolome signature indicative of BRCA1 germline status independent of cancer incidence.
    • Penkert J, Märtens A, Seifert M, Auber B, Derlin K, Hille-Betz U, Hörmann P, Klopp N, Prokein J, Schlicker L, Wacker F, Wallaschek H, Schlegelberger B, Hiller K, Ripperger T, Illig T.
    • Front Oncol. 2021 Jan 19;10:627217. doi: 10.3389/fonc.2021.627217.

    • ATM germline variants and male breast cancer.
    • Cunha R, Nejo P, Bento S, Vaz F.
    • BMJ Case Rep. 2021 Jan 18;14(1):e238100. doi: 10.1136/bcr-2020-238100.
    • Case report

    • 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.

    • Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.
    • Lotan TL, Kaur HB, Salles DC, Murali S, Schaeffer EM, Lanchbury JS, Isaacs WB, Brown R, Richardson AL, Cussenot O, Cancel-Tassin G, Timms KM, Antonarakis ES.
    • Mod Pathol. 2021 Jan 18. doi: 10.1038/s41379-020-00731-4. Epub ahead of print.

    • Why is appropriate healthcare inaccessible for many European breast cancer patients? - The EBCC 12 manifesto.
    • Cardoso F, MacNeill F, Penault-Llorca F, Eniu A, Sardanelli F, Nordström EB, Poortmans P.
    • Breast. 2021 Jan 2;55:128-135. doi: 10.1016/j.breast.2020.12.010. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Randomised phase II trial of olaparib, chemotherapy or olaparib and cediranib in patients with platinum-resistant ovarian cancer (OCTOVA): a study protocol.
    • Mansouri A, McGregor N, Dunn R, Dobbie S, Holmes J, Collins L, Nicum S.
    • BMJ Open. 2021 Jan 15;11(1):e041463. doi: 10.1136/bmjopen-2020-041463.

    • Niraparib maintenance therapy in patients with platinum-sensitive recurrent ovarian cancer using an individualized starting dose (NORA): a randomized, double-blind, placebo-controlled phase 3 trial.
    • Wu XH, Zhu JQ, Yin RT, Yang JX, Liu JH, Wang J, Wu LY, Liu ZL, Gao YN, Wang DB, Lou G, Yang HY, Zhou Q, Kong BH, Huang Y, Chen LP, Li GL, An RF, Wang K, Zhang Y, Yan XJ, Lu X, Lu WG, Hao M, Wang L, Cui H, Chen QH, Abulizi G, Huang XH, Tian XF, Wen H, Zhang C, Hou JM, Mirza MR.
    • Ann Oncol. 2021 Jan 13:S0923-7534(21)00008-9. doi: 10.1016/j.annonc.2020.12.018. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • The RAD51D c.82G>A (p.Val28Met) variant disrupts normal splicing and is associated with hereditary ovarian cancer.
    • Yang C, Arnold AG, Catchings A, Rai V, Stadler ZK, Zhang L.
    • Breast Cancer Res Treat. 2021 Jan 16. doi: 10.1007/s10549-020-06066-7. Epub ahead of print.

    • Morbidity, risk of cancer and mortality in 3,645 HFE mutations carriers.
    • Hagström H, Ndegwa N, Jalmeus M, Ekstedt M, Posserud I, Rorsman F, Nyhlin N, Klintman D, Werner M, Marschall HU, Askling J, Stål P; Swedish Hepatology Study Group (SweHep).
    • Liver Int. 2021 Jan 15. doi: 10.1111/liv.14792. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
    • Shani H, Bernstein-Molho R, Laitman Y, Netzer I, Friedman E.
    • Breast Cancer Res Treat. 2021 Jan 15. doi: 10.1007/s10549-020-06084-5. Epub ahead of print.

    • Triple-Negative Breast Cancer and the COVID-19 Pandemic: Clinical Management Perspectives and Potential Consequences of Infection.
    • Brown JM, Wasson MCD, Marcato P.
    • Cancers (Basel). 2021 Jan 15;13(2):E296. doi: 10.3390/cancers13020296.

    • Coffee consumption and breast cancer risk: a narrative review in the general population and in different subtypes of breast cancer.
    • Nehlig A, Reix N, Arbogast P, Mathelin C.
    • Eur J Nutr. 2021 Jan 13. doi: 10.1007/s00394-020-02465-0. Epub ahead of print.
    • Review

    • Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.
    • Santos M, Lanillos J, Roldan-Romero JM, Caleiras E, Montero-Conde C, Cascón A, Climent MA, Anguera G, Hernando S, Laínez N, Robledo M, Robles L, de Velasco G, García-Donas J, Rodriguez-Antona C.
    • Genet Med. 2021 Jan 13. doi: 10.1038/s41436-020-01062-0. Epub ahead of print.

    • Sustained, local delivery of the PARP inhibitor talazoparib prevents the development of mammary gland hyperplasia in Brca1-deficient mice.
    • Zhang D, Singh B, Moerland J, Mitchell O, Lockwood L, Carapellucci S, Sridhar S, Liby KT.
    • Sci Rep. 2021 Jan 13;11(1):1234. doi: 10.1038/s41598-020-79663-7.

    • Homologous Recombination Repair Mechanisms in Serous Endometrial Cancer.
    • Jönsson JM, Bååth M, Björnheden I, Sahin ID, Måsbäck A, Hedenfalk I.
    • Cancers (Basel). 2021 Jan 12;13(2):E254. doi: 10.3390/cancers13020254.

    • The Relationship Between GSTT1, GSTM1, GSTO1, GSTP1 and MTHFR Gene Polymorphisms and DNA Damage of BRCA1 and BRCA2 Genes in Arsenic-Exposed Workers.
    • Qian S, Tan J, Zhou Q, Yin J, Li H, He Y.
    • J Occup Environ Med. 2021 Jan 12. doi: 10.1097/JOM.0000000000002142. Epub ahead of print.

    • Integrating PARP inhibitors into the management of breast cancer: where are we?
    • Azim HA, Kassem L, Azim H Jr.
    • Chin Clin Oncol. 2020 Dec 31:cco-19-230. doi: 10.21037/cco-19-230. Epub ahead of print.

    • Facilitated cascade testing (FaCT): a randomized controlled trial.
    • Nitecki R, Moss HA, Watson CH, Urbauer DL, Melamed A, Lu KH, Lipkin SM, Offit K, Rauh-Hain JA, Frey MK.
    • Int J Gynecol Cancer. 2020 Dec 18:ijgc-2020-002118. doi: 10.1136/ijgc-2020-002118. Epub ahead of print.

    • Biomarkers in Her2- Positive Disease.
    • Klocker EV, Suppan C.
    • Breast Care (Basel). 2020 Dec;15(6):586-593. doi: 10.1159/000512283. Epub 2020 Oct 28.
    • Review

    • LitAlert ~~ GeneLit.com

    • Estimation of healthcare-related charges in women with BRCA mutations and breast cancer.
    • Biskupiak J, Unni S, Telford C, Yoo M, Ye X, Deka R, Brixner D, Stenehjem D.
    • BMC Health Serv Res. 2021 Jan 13;21(1):58. doi: 10.1186/s12913-020-06038-z.

    • Honoring the Life of Teri Woodhull.
    • [No author given]
    • FORCE. Blog. 2021 Jan 13.

    • American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline for Management of Hereditary Breast Cancer.
    • Yip CH, Newman LA.
    • JAMA Surg. 2021 Jan 13. doi: 10.1001/jamasurg.2020.6254. Epub ahead of print.
    • Guideline

    • Role of BRCA Mutation and HE4 in Predicting Chemotherapy Response in Ovarian Cancer: A Retrospective Pilot Study.
    • Plotti F, Terranova C, Guzzo F, De Cicco Nardone C, Luvero D, Bartolone M, Dionisi C, Benvenuto D, Fabris S, Ciccozzi M, Di Donato V, Panici PB, Angioli R.
    • Biomedicines. 2021 Jan 8;9(1):E55. doi: 10.3390/biomedicines9010055.

    • LitAlert ~~ GeneLit.com

    • Tracing Our Family Mutation to an Unlikely Place.
    • Eldridge C.
    • FORCE. Blog. 2021 Jan 13.

    • Intensivierte Früherkennung mittels Magnetresonanztomographie in der Hochrisikosituation [High-risk screening using magnetic resonance imaging].
    • Bick U.
    • Radiologe. 2021 Jan 12. German. doi: 10.1007/s00117-020-00797-w. Epub ahead of print.
    • Review, [Article in German]

    • A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.
    • Zhang Y, Shi X, Zhang J, Chen X, Zhang P, Liu A, Zhu T.
    • Sci Rep. 2021 Jan 11;11(1):387. doi: 10.1038/s41598-020-79694-0.

    • What improves the likelihood of people receiving genetic test results communicating to their families about genetic risk?
    • Bowen DJ, Makhnoon S, Shirts BH, Fullerton SM, Larson E, Ralston JD, Leppig K, Crosslin DR, Veenstra D, Jarvik GP.
    • Patient Educ Couns. 2021 Jan 7:S0738-3991(21)00001. doi: 10.1016/j.pec.2021.01.001. Epub ahead of print.

    • Volunteer Spotlight – Ashley Dedmon
    • Dedmon A.
    • FORCE. Blog. 2021 Jan 6.

    • Beyond BRCA: Cowden Syndrome (PTEN)
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Jan 6.

    • Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.
    • Li X, Li Z, Yang M, Luo Y, Hu L, Xiao Z, Huang A, Huang J.
    • Mol Genet Genomic Med. 2021 Jan 5:e1578. doi: 10.1002/mgg3.1578. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Intensivierte Früherkennung mittels Magnetresonanztomographie in der Hochrisikosituation [High-risk screening using magnetic resonance imaging].
    • Bick U.
    • Radiologe. 2021 Jan 12. German. doi: 10.1007/s00117-020-00797-w. Epub ahead of print.
    • Review, [Article in German]

    • A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.
    • Zhang Y, Shi X, Zhang J, Chen X, Zhang P, Liu A, Zhu T.
    • Sci Rep. 2021 Jan 11;11(1):387. doi: 10.1038/s41598-020-79694-0.

    • What improves the likelihood of people receiving genetic test results communicating to their families about genetic risk?
    • Bowen DJ, Makhnoon S, Shirts BH, Fullerton SM, Larson E, Ralston JD, Leppig K, Crosslin DR, Veenstra D, Jarvik GP.
    • Patient Educ Couns. 2021 Jan 7:S0738-3991(21)00001. doi: 10.1016/j.pec.2021.01.001. Epub ahead of print.

    • Volunteer Spotlight – Ashley Dedmon
    • Dedmon A.
    • FORCE. Blog. 2021 Jan 6.

    • Beyond BRCA: Cowden Syndrome (PTEN)
    • [No author given]
    • My Gene Counsel. Genetic Journal. 2021 Jan 6.

    • Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.
    • Li X, Li Z, Yang M, Luo Y, Hu L, Xiao Z, Huang A, Huang J.
    • Mol Genet Genomic Med. 2021 Jan 5:e1578. doi: 10.1002/mgg3.1578. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Insights Into the Impacts of BRCA Mutations on Clinicopathology and Management of Early-Onset Triple-Negative Breast Cancer.
    • Ye F, He M, Huang L, Lang G, Hu X, Shao Z, Di G, Cao A.
    • Front Oncol. 2021 Jan 11;10:574813. doi: 10.3389/fonc.2020.574813.

    • Screening and Preventative Strategies for Patients at High Risk for Breast Cancer.
    • Ter-Minassian M, Schaeffer ML, Jefferson CR, Shapiro SC, Suwannarat P, Visvanathan K.
    • JCO Oncol Pract. 2021 Jan 11:OP2000262. doi: 10.1200/OP.20.00262. Epub ahead of print.

    • Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
    • Tokunaga H, Iida K, Hozawa A, Ogishima S, Watanabe Y, Shigeta S, Shimada M, Yamaguchi-Kabata Y, Tadaka S, Katsuoka F, Ito S, Kumada K, Hamanaka Y, Fuse N, Kinoshita K, Yamamoto M, Yaegashi N, Yasuda J.
    • PLoS One. 2021 Jan 11;16(1):e0236907. doi: 10.1371/journal.pone.0236907.

    • #TripleNegativeBreastCancer on Instagram.
    • Henderson A, Miller CA, Sutton AL, Guidry JPD.
    • Health Educ Behav. 2021 Jan 10:1090198120985450. doi: 10.1177/1090198120985450. Epub ahead of print.

    • CASC15 polymorphisms are correlated with breast cancer susceptibility in Chinese Han women.
    • Chen P, Chen R, Guo H, Cheng J, Zhang R, Liu B, Pang J, Cao W.
    • Clin Breast Cancer. 2021 Jan 6:S1526-8209(21)00006-9. doi: 10.1016/j.clbc.2021.01.005. Epub ahead of print.

    • The financial burden of PARP inhibitors on patients, payors, and financial assistance programs: Who bears the cost?
    • Goldsberry WN, Summerlin SS, Guyton A, Caddell B, Huh WK, Kim KH, Liang MI.
    • Gynecol Oncol. 2021 Jan 4:S0090-8258(20)34254-2. doi: 10.1016/j.ygyno.2020.12.039. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers.
    • Stjepanovic N, Lubinski J, Moller P, Randall Armel S, Foulkes WD, Tung N, Neuhausen SL, Kotsopoulos J, Sun P, Sun S, Eisen A, Narod SA; Hereditary Breast Cancer Clinical Study Group.
    • Breast Cancer Res Treat. 2021 Jan 10. doi: 10.1007/s10549-020-06072-9. Epub ahead of print.

    • Pathogenicity Assessment of Variants for Breast Cancer Susceptibility Genes Based on BRCAness of Tumor Sample.
    • Yoshida R, Hagio T, Kaneyasu T, Gotoh O, Osako T, Tanaka N, Amino S, Yaguchi N, Nakashima E, Kitagawa D, Ueno T, Ohno S, Nakajima T, Nakamura S, Miki Y, Hirota T, Takahashi S, Matsuura M, Noda T, Mori S.
    • Cancer Sci. 2021 Jan 9. doi: 10.1111/cas.14803. Epub ahead of print.

    • Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
    • Fountzilas E, Eliades A, Koliou GA, Achilleos A, Loizides C, Tsangaras K, Pectasides D, Sgouros J, Papakostas P, Rallis G, Psyrri A, Papadimitriou C, Oikonomopoulos G, Ferentinos K, Koumarianou A, Zarkavelis G, Dervenis C, Aravantinos G, Bafaloukos D, Kosmidis P, Papaxoinis G, Theochari M, Varthalitis I, Kentepozidis N, Rigakos G, Saridaki Z, Nikolaidi A, Christopoulou A, Fostira F, Samantas E, Kypri E, Ioannides M, Koumbaris G, Fountzilas G, Patsalis PC.
    • Cancers (Basel). 2021 Jan 8;13(2):E198. doi: 10.3390/cancers13020198.

    • Targeting mTOR and DNA repair pathways in residual triple negative breast cancer post neoadjuvant chemotherapy.
    • Anand K, Patel T, Niravath P, Rodriguez A, Darcourt J, Belcheva A, Boone T, Ensor J, Chang J.
    • Sci Rep. 2021 Jan 8;11(1):82. doi: 10.1038/s41598-020-80081-y.

    • Germline BRCA1/2 mutations and severe haematological toxicities in patients with breast cancer treated with neoadjuvant chemotherapy.
    • Furlanetto J, Möbus V, Schneeweiss A, Rhiem K, Tesch H, Blohmer JU, Lübbe K, Untch M, Salat C, Huober J, Klare P, Schmutzler R, Couch FJ, Lederer B, Gerber B, Zahm DM, Bauerfeind I, Nekljudova V, Hanusch C, Jackisch C, Link T, Hahnen E, Loibl S, Fasching PA.
    • Eur J Cancer. 2021 Jan 7;145:44-52. doi: 10.1016/j.ejca.2020.12.007. Epub ahead of print.

    • PARPi, immunothérapies et anticorps monoclonaux conjugués dans les cancers du sein triple-négatifs [Recent therapeutic trends in triple-negative metastatic breast cancers: PARP inhibitors, immunotherapies and antibody-drug conjugates].
    • Dalenc F, Sarradin V, Nicolaï V, Franchet C, Ung M.
    • Bull Cancer. 2021 Jan 6:S0007-4551(20)30504-X. French. doi: 10.1016/j.bulcan.2020.11.007. Epub ahead of print.
    • Review. [Article in French]

    • LitAlert ~~ GeneLit.com

    • FLABRA, frontline approach for BRCA testing in an ovarian cancer population: a Latin America epidemiologic study.
    • Giornelli G, Gallardo D, Hegg R, Abuin GG, La Vega M, Lim-Law M, Caceres V, Trujillo L, Pilar Estevez-Diz MD, Pacheco C, Sganga L, Goncalves S.
    • Future Oncol. 2021 Jan 8. doi: 10.2217/fon-2020-1152. Epub ahead of print.

    • Modulation of Early Mitotic Inhibitor 1 (EMI1) depletion on the sensitivity of PARP inhibitors in BRCA1 mutated triple-negative breast cancer cells.
    • Moustafa D, Elwahed MRA, Elsaid HH, Parvin JD.
    • PLoS One. 2021 Jan 7;16(1):e0235025. doi: 10.1371/journal.pone.0235025.

    • Sharing Genetic Test Results with Family Members of BRCA, PALB2, CHEK2, and ATM Carriers.
    • Dean M, Tezak AL, Johnson S, Pierce JK, Weidner A, Clouse K, Pal T, Cragune D.
    • Patient Educ Couns. 2021 Jan 5:S0738-3991(20)306832. doi: 10.1016/j.pec.2020.12.019. Epub ahead of print.