Category: All HBOC

LitAlert ~~ GeneLit.com

    • Olaparib Plus Durvalumab and Bevacizumab Provides Durable Survival in Non-Germline, BRCA+ Relapsed Ovarian Cancer.
    • Seymour C.
    • OncLive. 2022 Dec 4.

    Related:

    •• Identifier: NCT02734004: A Phase I/II Study of MEDI4736 in Combination With Olaparib in Patients With Advanced Solid Tumors. (MEDIOLA). (ClinicalTrials.gov . Accessed 2022 Dec 4.)

    • Metastatic colorectal cancer as the primary phenotype in a hereditary breast and ovarian cancer patient with Germline BRCA1 mutation: a case report.
    • Liu Y, Zhu J, Wei X, Yang D, Li S, Qian X, Li L.
    • J Ovarian Res. 2022 Dec 3;15(1):127. doi: 10.1186/s13048-022-01069-y.

    • NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.
    • Jung K, Lee S, Na HY, Kim JW, Lee JC, Hwang JH, Kim JW, Kim J.
    • Sci Rep. 2022 Dec 3;12(1):20937. doi: 10.1038/s41598-022-24732-2.

    • Immediate Breast Reconstruction Using the Autologous Dermal Flap.
    • Kaviani A, Ashraf-Ganjouei A, Vasigh M, Zand S, Patocskai E.
    • J Surg Res. 2022 Nov 30;283:713-718. doi: 10.1016/j.jss.2022.11.002. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • Pamiparib in patients with locally advanced or metastatic HER2-negative breast cancer with germline BRCA mutations: a phase II study.
    • Xu B, Sun T, Shi Y, Cui J, Yin Y, Ouyang Q, Liu Q, Zhang Q, Chen Y, Wang S, Wang X, Tong Z, Zhong Y, Wang J, Yan M, Yan X, Wang C, Feng J, Wang X, Hu G, Cheng Y, Ge R, Zhu Z, Zhang W, Shao Z.
    • Breast Cancer Res Treat. 2022 Dec 2. doi: 10.1007/s10549-022-06785-z. Epub ahead of print.

    Related:

    •• Identifier: NCT03575065: Efficacy and Safety of BGB-290 in the Treatment of Metastatic HER2-Negative Breast Cancer Patients With BRCA Mutation in China. (ClinicalTrials.gov . Accessed 2022 Dec 2.)

    • Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer.
    • van Wagensveld L, van Baal JOAM, Timmermans M, Gaillard D, Borghuis L, Coffelt SB, Rosenberg EH, Lok CAR, Nijman HW, Kooreman LFS, Sanders J, de Bruijn M, Wessels LFA, van der Wiel R, Rausch C, Broeks A, Kruitwagen RFPM, van der Aa MA, Sonke GS, Schouten PC, Van de Vijver KK, Horlings HM.
    • Cancers (Basel). 2022 Dec 2;14(23):5965. doi: 10.3390/cancers14235965.

    • Advances in small molecule maintenance therapies for high-grade serous ovarian cancer.
    • Fischetti M, Di Donato V, Palaia I, Perniola G, Tomao F, Perrone C, Giancotti A, Di Mascio D, Monti M, Muzii L, Benedetti Panici P, Bogani G.
    • Expert Opin Pharmacother. 2022 Dec 2. doi: 10.1080/14656566.2022.2154144. Epub ahead of print.
    • Review

    • Cost-effectiveness of talazoparib for patients with locally advanced or metastasized breast cancer in Germany.
    • Schwarz F, Arefian H, Hartmann M, Runnebaum I.
    • PLoS One. 2022 Dec 1;17(12):e0278460. doi: 10.1371/journal.pone.0278460.

    • Genetic Predisposition to Male Breast Cancer: A Case Series.
    • Apessos A, Agiannitopoulos K, Pepe G, Tsaousis GN, Pitta P, Bili C, Florentin L, Saloustros E, Kampletsas E, Tryfonopoulos D, Tsoukalas N, Bournakis E, Zagouri F, Kotsakis A, Koumarianou A, Korantzis I, Boukovinas I, Lypas G, Fountzilas G, Michalaki V, Xynogalos S, Linardou H, Papadopoulou E, Nasioulas G, Georgoulias V.
    • Anticancer Res. 2022 Dec;42(12):5795-5801. doi: 10.21873/anticanres.16086.

    • LitAlert ~~ GeneLit.com

    • Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers.
    • Buckley KH, Niccum BA, Maxwell KN, Katona BW.
    • Cancers (Basel). 2022 Dec 1;14(23):5953. doi: 10.3390/cancers14235953.

    • The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer.
    • Garsed DW, Pandey A, Fereday S, Kennedy CJ, Takahashi K, Alsop K, Hamilton PT, Hendley J, Chiew YE, Traficante N, Provan P, Ariyaratne D, Au-Yeung G, Bateman NW, Bowes L, Brand A, Christie EL, Cunningham JM, Friedlander M, Grout B, Harnett P, Hung J, McCauley B, McNally O, Piskorz AM, Saner FAM, Vierkant RA, Wang C, Winham SJ, Pharoah PDP, Brenton JD, Conrads TP, Maxwell GL, Ramus SJ, Pearce CL, Pike MC, Nelson BH, Goode EL, DeFazio A, Bowtell DDL.
    • Nat Genet. 2020 Dec 1:1-9. doi: 10.1038/s41588-022-01230-9. Epub ahead of print.

    Related:

    •• Research news: Study Unearths Features Found in Long-Term Survivors of Advanced Ovarian Cancer. (GenomeWeb)

    • The germline mutational landscape of genitourinary cancers and its indication for prognosis and risk.
    • Yang Y, Zhang G, Hu C, Luo W, Jiang H, Liu S, Yang H.
    • BMC Urol. 2022 Nov 30;22(1):196. doi: 10.1186/s12894-022-01141-1.

    • Referral, Genetic Counselling, and BRCA Testing in the Manitoba High-Grade Serous Ovarian Cancer Population, 2004–2019.
    • Winchar K, Lambert P, McManus KJ, Chodirker B, Kean S, Serfas K, Decker K, Nachtigal MW, Altman AD.
    • Curr Oncol. 2022 Nov 30;29(12):9365-9376. doi: 10.3390/curroncol29120735.

    • LitAlert ~~ GeneLit.com

    • Clinical Application of Poly(ADP-Ribose) Polymerase (PARP) Inhibitors in Prostate Cancer.
    • Inderjeeth AJ, Topp M, Sanij E, Castro E, Sandhu S.
    • Cancers (Basel). 2022 Nov 30;14(23):5922. doi: 10.3390/cancers14235922.

    • Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.
    • Trendowski MR, Sample C, Baird T, Sadeghpour A, Moon D, Ruterbusch JJ, Beebe-Dimmer JL, Cooney KA.
    • JCO Precis Oncol. 2022 Nov [2022 Nov 29];6:e2200460. doi: 10.1200/PO.22.00460.

    Related:

    •• Research news: Genetic Variants Linked to Prostate Cancer in Black Men Identified. (Inside Precision Medicine)

    • Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.
    • Dong Z, Wang Y, Zhang J, Zhu F, Liu Z, Kang Y, Lin M, Shi H.
    • J Hum Genet. 2022 Nov 29. doi: 10.1038/s10038-022-01077-2. Epub ahead of print.

    • Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
    • Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J.
    • J Med Genet. 2022 Nov 29:jmg-2022-108929. doi: 10.1136/jmg-2022-108929. Epub ahead of print.

    • Pathway-level mutation analysis in primary high-grade serous ovarian cancer and matched brain metastases.
    • Duchnowska R, Supernat AM, Pęksa R, Łukasiewicz M, Stokowy T, Ronen R, Dutkowski J, Umińska M, Iżycka-Świeszewska E, Kowalczyk A, Och W, Rucińska M, Olszewski WP, Mandat T, Jarosz B, Bieńkowski M, Biernat W, Jassem J.
    • Sci Rep. 2022 Nov 29;12(1):20537. doi: 10.1038/s41598-022-23788-4.

    • [18F]FluorThanatrace ([18F]FTT) PET Imaging of PARP-inhibitor Drug-Target Engagement as a Biomarker of Response in Ovarian Cancer, a pilot study.
    • Pantel AR, Gitto SB, Makvandi M, Kim H, Medvedv S, Weeks JK, Torigian DA, Hsieh CJ, Ferman B, Latif NA, Tanyi JL, Martin LP, Lanzo SM, Liu F, Cao Q, Mills GB, Doot RK, Mankoff DA, Mach RH, Lin LL, Simpkins F.
    • Clin Cancer Res. 2022 Nov 28:CCR-22-1602. doi: 10.1158/1078-0432.CCR-22-1602. Epub ahead of print.

    • Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.
    • Chen D, Zhang C, Yuan M, Zhang Y, Liu Q, Wan D.
    • Front Oncol. 2022 Nov 28;12:970641. doi: 10.3389/fonc.2022.970641.

    • Halo Diagnostics, Ikonopedia Partner to Provide Genetic Testing for Breast Cancer.
    • [No author given]
    • Precision Oncology News. 2022 Nov 28.

    • Long-term response to olaparib in a patient with metastatic pancreatic cancer associated with hereditary breast and ovarian cancer syndrome.
    • Tsuneizumi M, Terada S, Usui T, Yamaguchi K, Hayami R, Matsunuma R.
    • Oxf Med Case Reports. 2022 Nov 24;2022(11):omac124. doi: 10.1093/omcr/omac124.

    • LitAlert ~~ GeneLit.com

    • CCAR2 functions downstream of the Shieldin complex to promote double-strand break end-joining.
    • Iyer DR, Harada N, Clairmont C, Jiang L, Martignetti D, Nguyen H, He YJ, Chowdhury D, D'Andrea AD.
    • Proc Natl Acad Sci U S A. 2022 Dec 6;119(49):e2214935119. doi: 10.1073/pnas.2214935119. Epub 2022 Nov 29.

    • BIA-ALCL Epidemiological Findings From a Retrospective Study of 248 Cases Extracted from Relevant Case Reports and Series: A Systematic Review.
    • Di Pompeo FS, Panagiotakos D, Firmani G, Sorotos M.
    • Aesthet Surg J. 2022 Nov 29:sjac312. doi: 10.1093/asj/sjac312. Epub ahead of print.

    • THE IMPACT OF PANCREATIC CANCER SCREENING ON LIFE EXPECTANCY: A SYSTEMATIC REVIEW OF MODELLING STUDIES.
    • Koopmann BDM, Omidvari AH, Lansdorp-Vogelaar I, Cahen DL, Bruno MJ, de Kok IMCM.
    • Int J Cancer. 2022 Nov 28. doi: 10.1002/ijc.34379. Epub ahead of print.
    • Review

    • Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
    • Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER.
    • J Med Genet. 2022 Nov 28:jmg-2022-108790. doi: 10.1136/jmg-2022-108790. Epub ahead of print.

    • Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias.
    • Vallera RD, Ding Y, Hatanpaa KJ, Bishop JA, Mirfakhraee S, Alli AA, Tevosian SG, Tabebi M, Gimm O, Söderkvist P, Estrada-Zuniga C, Dahia PLM, Ghayee HK.
    • Front Endocrinol (Lausanne). 2022 Nov 7;13:1024108. doi: 10.3389/fendo.2022.1024108.

    • LitAlert ~~ GeneLit.com

    • Testing for Inherited Susceptibility to Breast Cancer.
    • Robson M.
    • Hematol Oncol Clin North Am. 2023 Feb;37(1):17-31. doi: 10.1016/j.hoc.2022.08.003.
    • Review

    • Systemic Therapy for Hereditary Breast Cancers.
    • Harvey-Jones EJ, Lord CJ, Tutt ANJ.
    • Hematol Oncol Clin North Am. 2023 Feb;37(1):203-224. doi: 10.1016/j.hoc.2022.08.018.

    • Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
    • Ding YC, Adamson AW, Bakhtiari M, Patrick C, Park J, Laitman Y, Weitzel JN, Bafna V, Friedman E, Neuhausen SL.
    • Eur J Hum Genet. 2022 Nov 25. doi: 10.1038/s41431-022-01238-z. Epub ahead of print.

    • Germline mutations in prostate cancer: a systematic review of the evidence for personalized medicine.
    • Marino F, Totaro A, Gandi C, Bientinesi R, Moretto S, Gavi F, Pierconti F, Iacovelli R, Bassi P, Sacco E.
    • Prostate Cancer Prostatic Dis. 2022 Nov 24. doi: 10.1038/s41391-022-00609-3. Epub ahead of print.
    • Review

    • LitAlert ~~ GeneLit.com

    • The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
    • Ben Aissa-Haj J, Pinheiron H, Cornelis F, Sebai M, Meseure D, Briaux A, Berteaux P, Lefol C, Des Guetz G, Trassard M, Stevens D, Vialard F, Bieche I, Noguès C, Tang R, Oliveira C, Stoppat-Lyonnet D, Lidereau R, Rouleau E.
    • Genes (Basel). 2022 Nov 25;13(12):2213. doi: 10.3390/genes13122213.

    • BRCAShare-Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study.
    • Aeilts AM, Carpenter KM, Hovick SR, Byrne L, Shoben AB, Senter L.
    • J Genet Couns. 2022 Nov 25. doi: 10.1002/jgc4.1656. Epub ahead of print.

    • A review of the cost-effectiveness of genetic testing for germline variants in familial cancer.
    • Teppala S, Hodgkinson B, Hayes S, Scuffham P, Tuffaha H.
    • J Med Econ. 2022 Nov 25:1-38. doi: 10.1080/13696998.2022.2152233. Epub ahead of print.

    • Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
    • Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novakovic S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C.
    • Lancet Oncol. 2022 Nov 24:S1470-2045(22)00643-X. doi: 10.1016/S1470-2045(22)00643-X. Epub ahead of print.

    • Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
    • Lee NY, Hum M, Amali AA, Lim WK, Wong M, Myint MK, Tay RJ, Ong PY, Samol J, Lim CW, Ang P, Tan MH, Lee SC, Lee ASG.
    • Hum Genomics. 2022 Nov 23;16(1):61. doi: 10.1186/s40246-022-00435-7.

    • Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in West Indian population.
    • Waghela BN, Pandit RJ, Puvar A, Shah FD, Patel PS, Vora H, Sheth H, Tarapara B, Pandya S, Joshi CG, Joshi MN.
    • Gene. 2022 Nov 22:147070. doi: 10.1016/j.gene.2022.147070. Epub ahead of print.

    • Prevalence and Prognostic Relevance of Homologous Recombination Repair Gene Mutations in Uterine Serous Carcinoma.
    • Dong L, Wang T, Li N, Yao H, Ying J, Wu L, Yuan G.
    • Cells. 2022 Nov 11;11(22):3563. doi: 10.3390/cells11223563.

    • Testing a deliberative democracy method with citizens of African ancestry to weigh pros and cons of targeted screening for hereditary breast and ovarian cancer risk.
    • Guan Y, Pathak S, Ballard D, Veluswamy JK, McCullough LE, McBride CM, Gornick MC.
    • Front Public Health. 2022 Nov 8;10:984926. doi: 10.3389/fpubh.2022.984926.

    • LitAlert ~~ GeneLit.com

    • Should Preimplantation Genetic Testing (PGT) Systematically Be Proposed to BRCA Pathogenic Variant Carriers?
    • Laot L, Sonigo C, Nobre J, Benachi A, Dervin T, El Moujahed L, Mayeur A, Stoppa-Lyonnet D, Steffann J, Grynberg M.
    • Cancers (Basel). 2022 Nov 24;14(23):5769. doi: 10.3390/cancers14235769.

    • Pre-Existing and Acquired Resistance to PARP Inhibitor-Induced Synthetic Lethality.
    • Viet Le B, Podszywalow-Bartnicka P, Piwocka K, Skorski T.
    • Cancers (Basel). 2022 Nov 24;14(23):5795. doi: 10.3390/cancers14235795.

    • Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
    • Murciano-Goroff YR, Schram AM, Rosen EY, Won H, Gong Y, Noronha AM, Janjigian YY, Stadler ZK, Chang JC, Yang SR, Mandelker D, Offit K, Berger MF, Donoghue MTA, Bandlamudi C, Drilon A.
    • Nat Commun. 2022 Nov 23;13(1):7182. doi: 10.1038/s41467-022-34109-8.

    • The prognostic role of systemic inflammatory markers in apparent early-stage ovarian cancer.
    • Bizzarri N, D'Indinosante M, Marchetti C, Tudisco R, Turchiano F, Scambia G, Fagotti A.
    • Int J Clin Oncol. 2022 Nov 22. doi: 10.1007/s10147-022-02272-z. Epub ahead of print.

    • LitAlert ~~ GeneLit.com

    • UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer.
    • [No author given]
    • GenomeWeb. The Scan. 2022 Nov 23.

    Related:

    •• Original research:

    A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.

    • Four-in-Five Eligible Breast Cancer Patients Not Informed of Genomic Testing Options.
    • [No author given]
    • Inside Precision Medicine. Topics. Oncology. 2022 Nov 21.

    • LitAlert ~~ GeneLit.com

    • Investigating Psychological Impact after Receiving Genetic Risk Results—A Survey of Participants in a Population Genomic Screening Program.
    • Zayac McCormick CZ, Dilzell Yu K, Johns A, Campbell-Salome G, Hallquist MLG, Sturm AC, Buchanan AH.
    • J Pers Med. 2022 Nov 22;12(12):1943. doi: 10.3390/jpm12121943.

    • The Prospective Lynch Syndrome Database: background, design, main results and complete MySQL code.
    • Møller P.
    • Hered Cancer Clin Pract. 2022 Nov 21;20(1):37. doi: 10.1186/s13053-022-00243-z.

    • Poly-ADP-ribose polymerase (PARP) inhibitors and ovarian function.
    • Li J, Li Q, Zhang L, Zhang S, Dai Y.
    • Biomed Pharmacother. 2022 Nov 18;157:114028. doi: 10.1016/j.biopha.2022.114028. Epub ahead of print.

    • Role of Rucaparib in the Treatment of Prostate Cancer: Clinical Perspectives and Considerations.
    • Wu MS, Goldberg H.
    • Cancer Manag Res. 2022 Nov 15;14:3159-3174. doi: 10.2147/CMAR.S353411.

    • [Breast and Advanced Ovarian Double Cancer with a BRCA2 Pathogenic Variant-A Case Report].
    • Tanaka Y, Oota R, Takagi Y, Kodama W, Nishimura K, Hamasaki T, Fukino S, Suo K.
    • Gan To Kagaku Ryoho. 2022 Nov;49(11):1271-1273. Japanese.
    • Case report. [Article in Japanese]

    • Gene-Level Associations in Patients With and Without Pathogenic Germline Variants in CDKN2A and Pancreatic Cancer.
    • Astiazaran-Symonds E, Graham C, Kim J, Tucker MA, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Sampson JN, Zhu B, Bruno W, Queirolo P, Fornarini G, Sciallero S, Carter B, Hicks B, Hutchinson A, Jones K, Stewart DR, Chanock SJ, Freedman ND, Landi MT, Höiom V, Puig S, Gruis N, Yang XR, Ghiorzo P, Goldstein AM.
    • JCO Precis Oncol. 2022 Nov;6:e2200145. doi: 10.1200/PO.22.00145.

    • Relationship between Baseline [18F]FDG PET/CT Semiquantitative Parameters and BRCA Mutational Status and Their Prognostic Role in Patients with Invasive Ductal Breast Carcinoma.
    • Dondi F, Albano D, Bellini P, Camoni L, Treglia G, Bertagna F.
    • Tomography. 2022 Oct 27;8(6):2662-2675. doi: 10.3390/tomography8060222.

    • Pancreatic Cancer Screening Appears Safe, Effective for High-Risk Patients.
    • Crist C.
    • Medscape Oncology. 2022 Oct 26.