Category: All HBOC

LitAlert ~~ GeneLit.com

    • Olaparib Efficacy in Patients with Metastatic Castration-resistant Prostate Cancer and BRCA1, BRCA2 or ATM Alterations Identified by Testing Circulating Tumor DNA.
    • Matsubara N, de Bono J, Olmos D, Procopio G, Kawakami S, Ürün Y, van Alphen R, Flechon A, Carducci MA, Choi YD, Hotte SJ, Korbenfeld E, Kramer G, Agarwal N, Chi KN, Dearden S, Gresty C, Kang J, Poehlein C, Harrington EA, Hussain M.
    • Clin Cancer Res. 2022 Nov 1:CCR-21-3577. doi: 10.1158/1078-0432.CCR-21-3577. Epub ahead of print.

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    • Emerging strategies: PARP inhibitors in combination with immune checkpoint blockade in BRCA1 and BRCA2 mutation-associated and triple-negative breast cancer.
    • Tanya Gupta T, Vinayak S, Telli M.
    • Breast Cancer Res Treat. 2022 Nov 1. doi: 10.1007/s10549-022-06780-4. Epub ahead of print.
    • Review

    • Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family.
    • Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay L, Ghazani A, Rana HQ.
    • Cancer Genet. 2022 Nov 1. doi: 10.1016/j.cancergen.2022.10.144. Epub ahead of print.
    • Case report

    • The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
    • Baz M, Gondran-Teiller V, Bressac B, Cabaret O, Fievet A, Dimaria M, Goldbarg V, Colas C, Bonnet-Dupeyron MN, Tinat J, Lebrun M, Mari V, Limacher JM, Corsini C, Ginglinger E, Saurin JC, Brahimi A, Rouzier C, Giraud S, Schuster H, Hollebecque A, Boige V, Cauchin E, Malka D, Caron O, Rouleau E.
    • Dig Dis Sci. 2022 Oct 31. doi: 10.1007/s10620-022-07733-z. Epub ahead of print.

    • Germline and somatic variants in ovarian carcinoma: a next-generation sequencing (NGS) analysis.
    • Andrikopoulou A, Zografos E, Apostolidou K, Kyriazoglou T, Papatheodoridi AM, Kaparelou M, Koutsoukos K, Liontos M, Dimopoulos M, Zagouri F.
    • Front Oncol. 2022 Oct 31;12:1030786. doi: 10.3389/fonc.2022.1030786.

    • BRCA mutational status shapes the stromal microenvironment of pancreatic cancer linking clusterin expression in cancer associated fibroblasts with HSF1 signaling.
    • Shaashua L, Ben-Shmuel A, Pevsner-Fischer M, Friedman G, Levi-Galibov O, Nandakumar S, Barki D, Nevo R, Brown LE, Zhang W, Stein Y, Lior C, Kim HS, Bojmar L, Jarnagin WR, Lecomte N, Mayer S, Stok R, Bishara H, Hamodi R, Levy-Lahad E, Golan T, Porco JA Jr, Iacobuzio-Donahue CA, Schultz N, Tuveson DA, Lyden D, Kelsen D, Scherz-Shouval R.
    • Nat Commun. 2022 Oct 31;13(1):6513. doi: 10.1038/s41467-022-34081-3.

    • Hereditary variants of unknown significance in African American women with breast cancer.
    • McDonald JT, Ricks-Santi LJ.
    • PLoS One. 2022 Oct 31;17(10):e0273835. doi: 10.1371/journal.pone.0273835.

    • Metastatic involvement of inguinal lymph nodes as the first sign of endometroid carcinoma of the fallopian tube.
    • Maradová E, Jánošík M, Pilka R, Marek R.
    • Ceska Gynekol. 2022 Fall;87(5):328-332. English. doi: 10.48095/cccg2022328.
    • Case report

    • LitAlert ~~ GeneLit.com

    • Somatic Inactivation of Breast Cancer Predisposition Genes in Tumours Associated with Pathogenic Germline Variants.
    • Lim BWX, Li N, Mahale S, Mcinerny S, Zethoven M, Rowley SM, Huynh J, Wang T, Lee JEA, Friedman M, Devereux L, Scott RJ, Sloan EK, James PA, Campbell IG.
    • J Natl Cancer Inst. 2022 Oct 31:djac196. doi: 10.1093/jnci/djac196. Epub ahead of print.

    • PARP-inhibitors for BRCA1/2-related advanced HER2-negative breast cancer: A meta-analysis and GRADE recommendations by the Italian Association of Medical Oncology.
    • Miglietta F, Cinquini M, Dieci MV, Cortesi L, Criscitiello C, Montemurro F, Del Mastro L, Zambelli A, Biganzoli L, Levaggi A, Piane CD, Marchiò C, Calabrese M, Fortunato L, Franco P, Meduri B, Fittipaldo VA, Gori S.
    • Breast. 2022 Oct 29:S0960-9776(22)00179-5. doi: 10.1016/j.breast.2022.10.014. Epub ahead of print.

    • Development of a web-based, theory-guided narrative intervention for women at elevated risk for breast cancer.
    • Katz ML, Senter L, Reiter PL, Emerson B, Ennis AC, Shane-Carson KP, Aeilts A, Cassingham HR, Schnell PM, Agnese DM, Toland AE, Sweet K.
    • Patient Educ Couns. 2022 Oct 29:S0738-3991(22)00820-5. doi: 10.1016/j.pec.2022.10.348. Epub ahead of print.

    • Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
    • Negri S, De Ponti E, Sina FP, Sala E, Dell'Oro C, Roversi G, Lazzarin S, Delle Marchette M, Inzoli A, Toso C, Fumagalli S, Campanella M, Kotsopoulos J, Fruscio R.
    • Mol Genet Genomic Med. 2022 Oct 28:e2071. doi: 10.1002/mgg3.2071. Epub ahead of print.

    • PARP Inhibitors in Metastatic Castration-Resistant Prostate Cancer: Whom to Treat?
    • Loguidice CT.
    • OncLive. 2022 Oct 28.

    • Platinum-based chemotherapy in locally advanced or metastatic pancreatic ductal adenocarcinoma (PDAC): summary of evidence and application in clinical practice.
    • Reinacher-Schick A, Arnold D, Venerito M, Goekkurt E, Kraeft AL, Seufferlein T.
    • Oncol Res Treat. 2022 Oct 28. doi: 10.1159/000527692. Epub ahead of print.
    • Review

    • Adolescent Triple-negative Breast Cancer with Germline Pathogenic Variants in both BRCA1 and TP53 Genes: A Case Report.
    • Chen D, Yuan M, Zhang Y, Zhang C, Wan D.
    • Front Oncol. 2022 Oct 26;12:970641. doi: 10.3389/fonc.2022.970641.

    • PTEN Loss Enhances Error-Prone DSB Processing and Tumor Cell Radiosensitivity by Suppressing RAD51 Expression and Homologous Recombination.
    • Pei X, Mladenov E, Soni A, Li F, Stuschke M, Iliakis G.
    • Int J Mol Sci. 2022 Oct 25;23(21):12876. doi: 10.3390/ijms232112876.

    • The DNA damage induced immune response: Implications for cancer therapy.
    • Barros EM, McIntosh SA, Savage KI.
    • DNA Repair (Amst). 2022 Oct 3;120:103409. doi: 10.1016/j.dnarep.2022.103409. Epub ahead of print.

    • Adolescent Triple-negative Breast Cancer with Germline Pathogenic Variants in both BRCA1 and TP53 Genes: A Case Report.
    • Chen D, Yuan M, Zhang Y, Zhang C, Wan D.
    • Front Oncol. 2022 Oct 26;12:970641. doi: 10.3389/fonc.2022.970641.

    • LitAlert ~~ GeneLit.com

    • Revision Rate of Direct-to-Implant Breast Reconstruction: Is it Truly a Single-Stage Reconstruction? A Single-Surgeon Experience.
    • Adler N, Carmon E, Houri P.
    • Aesthetic Plast Surg. 2022 Oct 28. doi: 10.1007/s00266-022-03136-7. Epub ahead of print.

    • Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
    • Zang B, Helms M, Besch L, Kalmbach N, Stegen S, Blohmer JU, Speiser D.
    • Arch Gynecol Obstet. 2022 Oct 28. doi: 10.1007/s00404-022-06819-3. Epub ahead of print.

    • Germline mutations in 5' to c.7914 of BRCA2 significantly increase risk of prostate cancer.
    • Ruan XH, Huang D, Lin XL, Fang ZJ, Ding Q, Wu YS, Na R.
    • Asian J Androl. 2022 Oct 28. doi: 10.4103/aja202277. Epub ahead of print.

    • Overlapping gene dependencies for PARP inhibitors and carboplatin response identified by functional CRISPR-Cas9 screening in ovarian cancer.
    • Coelho R, Tozzi A, Disler M, Lombardo F, Fedier A, López MN, Freuler F, Jacob F, Heinzelmann-Schwarz V.
    • Cell Death Dis. 2022 Oct 28;13(10):909. doi: 10.1038/s41419-022-05347-x.

    • Nonsurgical Options for Risk Reduction of Contralateral Breast Cancer in BRCA Mutation Carriers With Early-Stage Breast Cancer.
    • Evron E, Ben-David MA, Kaidar-Person O, Corn BW.
    • J Clin Oncol. 2022 Oct 28:JCO2201609. doi: 10.1200/JCO.22.01609. Epub ahead of print.

    • Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
    • Negri S, De Ponti E, Sina FP, Sala E, Dell'Oro C, Roversi G, Lazzarin S, Delle Marchette M, Inzoli A, Toso C, Fumagalli S, Campanella M, Kotsopoulos J, Fruscio R.
    • Mol Genet Genomic Med. 2022 Oct 28:e2071. doi: 10.1002/mgg3.2071. Epub ahead of print.

    • Library adaptors with integrated reference controls improve the accuracy and reliability of nanopore sequencing.
    • Gunter HM, Youlten SE, Madala BS, Reis ALM, Stevanovski I, Wong T, Kummerfield SK, Deveson IW, Santini NS, Marcellin E, Mercer TR.
    • Nat Commun. 2022 Oct 28;13(1):6437. doi: 10.1038/s41467-022-34028-8.

    • Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
    • Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Shimon P; ESMO Guidelines Committee.
    • Ann Oncol. 2022 Oct 19:S0923-7534(22)04193-X. doi: 10.1016/j.annonc.2022.10.004. Epub ahead of print.

    • Age-Dependent Heterogeneity of Lymph Node Metastases and Survival Identified by Analysis of a National Breast Cancer Registry.
    • Behring M, Bajpai P, Afaq F, Elkholy A, Kim HG, Al Diffalha S, Shrestha S, Manne U.
    • J Pharm Pharmacol Res. 2022;6(3):147-157. doi: 10.26502/fjppr.060. Epub 2022 Sep 19.

    • LitAlert ~~ GeneLit.com

    • Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers.
    • Faermann R, Friedman E, Kaidar-Person O, Weidenfeld J, Brodsky M, Shalmon A, Neiman OH, Gotlieb M, Yagil Y, Samoocha D, Madorsky Feldman D, Sklair-Levy M.
    • Breast J. 2022 Oct 27. doi: 10.1155/2022/4317693. Online ahead of print.

    • What happens in the long term: Uptake of cancer surveillance and prevention strategies among at-risk relatives with pathogenic variants detected via cascade testing.
    • Frey MK, Ahsan MD, Badiner N, Lin J, Narayan P, Nitecki R, Rauh-Hain JA, Moss H, Fowlkes RK, Thomas C, Bergeron H, Christos P, Levi SR, Blank SV, Holcomb K, Cantillo E, Sharaf RN, Lipkin S, Offit K, Chapman-Davis E.
    • Cancer. 2022 Oct 27. doi: 10.1002/cncr.34482. Epub ahead of print.

    • Comprehensive Clinical and Genetic Analysis of CHEK2 in Croatian Men with Prostate Cancer.
    • Kirchner K, Gamulin M, Kulis T, Sievers B, Kastelan Z, Lessel D.
    • Genes (Basel). 2022 Oct 27;13(11):1955. doi: 10.3390/genes13111955.

    • Concurrent Olaparib and Radiotherapy in Patients With Triple-Negative Breast Cancer: The Phase 1 Olaparib and Radiation Therapy for Triple-Negative Breast Cancer Trial.
    • Loap P, Loirat D, Berger F, Rodrigues M, Bazire L, Pierga JY, Vincent-Salomon A, Laki F, Boudali L, Raizonville L, Mosseri V, Jochem A, Eeckhoutte A, Diallo M, Stern MH, Fourquet A, Kirova Y.
    • JAMA Oncol. 2022 Oct 27. doi: 10.1001/jamaoncol.2022.5074. Epub ahead of print.

    • Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.
    • Botrus G, Roe D, Jameson GS, Serrano Uson Junior PL, Korn RL, Caldwell L, Bargenquast T, Miller M, Borazanci EH.
    • Biomedicines. 2022 Oct 26;10(11):2705. doi: 10.3390/biomedicines10112705.

    • LitAlert ~~ GeneLit.com

    • Electrochemical biosensors for analysis of DNA point mutations in cancer research.
    • Ondraskova K, Sebuyoya R, Moranova L, Holcakova J, Vonka P, Hrstka R, Bartosik M.
    • Anal Bioanal Chem. 2022 Oct 27. doi: 10.1007/s00216-022-04388-7. Epub ahead of print.
    • Review

    • Concurrent Olaparib and Radiotherapy in Patients With Triple-Negative Breast CancerThe Phase 1 Olaparib and Radiation Therapy for Triple-Negative Breast Cancer Trial.
    • Pierre Loap, Delphine Loirat, Frederique Berger, Manuel Rodrigues, Louis Bazire, Jean-Yves Pierga, Anne Vincent-Salomon, Fatima Laki, Latifa Boudali, Laurence Raizonville, Veronique Mosseri, Anne Jochem, Alexandre Eeckhoutte, Mamadou Diallo, Marc-Henri Stern, Alain Fourquet, Youlia Kirova
    • JAMA Oncol. 2022 Oct 27. doi: 10.1001/jamaoncol.2022.5074. Epub ahead of print.

    • Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.
    • Dron HA, Bucio D, Young JL, Tabor HK, Cho MK.
    • J Genet Couns. 2022 Oct 27. doi: 10.1002/jgc4.1632. Epub ahead of print.

    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 7: Novel Maintenance Strategies Being Explored in Advanced Ovarian Cancer Treatment.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 27.

    • Optimizing Therapy for Ovarian Cancer: Recent Data Highlights - Episode 8: PARP Inhibitor Resistance in Ovarian Cancer Treatment.
    • Monk BJ, Coleman RL, Westin SN, Birrer MJ.
    • OncLive. Peer Exchange. 2022 Oct 27.

    • Safety and efficacy of avelumab plus carboplatin in patients with metastatic castration-resistant prostate cancer in an open-label Phase Ib study.
    • Rodriguez-Vida A, Maroto P, Font A, Martin C, Mellado B, Corbera A, Orrillo M, Reig O, Querol R, Rios-Hoyo A, Cano L, Alonso J, Martinez G, Galtes S, Taus A, Martinez-Garcia M, Juanpere N, Juan O, Bellmunt J.
    • Br J Cancer. 2022 Oct 26. doi: 10.1038/s41416-022-01991-4. Epub ahead of print.

    • Common germline risk variants impact somatic alterations and clinical features across cancers.
    • Namba S, Saito Y, Kogure Y, Masuda T, Bondy ML, Gharahkhani P, Gockel I, Heider D, Hillmer A, Jankowski J, MacGregor S, Maj C, Melin B, Ostrom QT, Palles C, Schumacher J, Tomlinson I, Whiteman DC, Okada Y, Kataoka K.
    • Cancer Res. 2022 Oct 26:CAN-22-1492. doi: 10.1158/0008-5472.CAN-22-1492. Epub ahead of print.

    • Single-cell genomic variation induced by mutational processes in cancer.
    • Funnell T, O'Flanagan CH, Williams MJ, McPherson A, McKinney S, Kabeer F, Lee H, Salehi S, Vázquez-García I, Shi H, Leventhal E, Masud T, Eirew P, Yap D, Zhang AW, Lim JLP, Wang B, Brimhall J, Biele J, Ting J, Au V, Van Vliet M, Liu YF, Beatty S, Lai D, Pham J, Grewal D, Abrams D, Havasov E, Leung S, Bojilova V, Moore RA, Rusk N, Uhlitz F, Ceglia N, Weiner AC, Zaikova E, Douglas JM, Zamarin D, Weigelt B, Kim SH, Da Cruz Paula A, Reis-Filho JS, Martin SD, Li Y, Xu H, de Algara TR, Lee SR, Llanos VC, Huntsman DG, McAlpine JN; IMAXT Consortium, Shah SP, Aparicio S.
    • Nature. 2022 Oct 26. doi: 10.1038/s41586-022-05249-0. Epub ahead of print.

    • Olaparib as a single agent treatment in pre-treated metastatic pancreatic cancer patient harboring BRCA2 mutation: What could we expect?
    • Garajová I, Balsano R, Gelsomino F, Leonardi F.
    • Tumori. 2022 Oct 26:3008916221132589. doi: 10.1177/03008916221132589. Epub ahead of print.
    • Case report

    • Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania.
    • Felbor U, Bülow R, Schmutzler RK, Rath M.
    • Healthcare (Basel). 2022 Oct 13;10(10):2021. doi: 10.3390/healthcare10102021.

    • Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
    • Bilyalov A, Nikolaev S, Shigapova L, Khatkov I, Danishevich A, Zhukova L, Smolin S, Titova M, Lisica T, Bodunova N, Shagimardanova E, Gusev O.
    • Biology (Basel). 2022 Oct 5;11(10):1461. doi: 10.3390/biology11101461.

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    • TRAIL Receptor Targeting Agents Potentiate PARP Inhibitor Efficacy in Pancreatic Cancer Independently of BRCA2 Mutation Status.
    • Khaled NB, Hammer K, Ye L, Alnatsha A, Widholz SA, Piseddu I, Sirtl S, Schneider J, Munker S, Mahajan UM, Montero JJ, Griger J, Mayerle J, Reiter FP, De Toni EN.
    • Cancers (Basel). 2022 Oct 26;14(21):5240. doi: 10.3390/cancers14215240.

    • The evolving landscape of PARP inhibitors in castration-resistant prostate cancer: a spotlight on treatment combinations.
    • Teply BA, Antonarakis ES.
    • Expert Rev Clin Pharmacol. 2022 Oct 26. doi: 10.1080/17512433.2022.2140656. Epub ahead of print.
    • Review

    • Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.
    • Lobanova O, Medvedieva N, Fishchuk L, Dubitska O, Cheshuk V, Vereshchako R, Zakhartseva L, Rossokha Z, Gorovenko N.
    • Breast Cancer Res Treat. 2022 Oct 25. doi: 10.1007/s10549-022-06774-2. Epub ahead of print.

    • Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients.
    • Zhang D, Xu X, Wei Y, Chen X, Li G, Lu Z, Zhang X, Ren X, Wang S, Qin C.
    • Cancer Control. 2022 Jan-Dec [2022 Oct 25];29:10732748221129451. doi: 10.1177/10732748221129451.

    • Biomarkers beyond BRCA: promising combinatorial treatment strategies in overcoming resistance to PARP inhibitors.
    • Chu YY, Yam C, Yamaguchi H, Hung MC.
    • J Biomed Sci. 2022 Oct 25;29(1):86. doi: 10.1186/s12929-022-00870-7.

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    • Overview on population screening for carriers with germline BRCA mutation in China.
    • Lei H, Zhang M, Zhang L, Hemminki K, Wang X, Chen T.
    • Front Oncol. 2022 Oct 24;12:1002360. doi: 10.3389/fonc.2022.1002360.

    • Rucaparib as a Salvage Treatment in Platinum-Sensitive Relapsed Ovarian Carcinoma: A Case Report.
    • Biswas G.
    • Cureus. 2022 Oct 17;14(10):e30405. doi: 10.7759/cureus.30405.