Category: Phenotype

LitAlert ~~ GeneLit.com

    • Prognostic and Predictive Biomarkers in Familial Breast Cancer.
    • Deb S, Chakrabarti A, Fox SB.
    • Cancers (Basel). 2023 Feb 20;15(4):1346. doi: 10.3390/cancers15041346.

    • Functional homologous recombination assay on FFPE specimens of advanced high-grade serous ovarian cancer predicts clinical outcomes.
    • Pikkusaari S, Tumiati M, Virtanen A, Oikkonen J, Li Y, Perez-Villatoro F, Muranen T, Salko M, Huhtinen K, Kanerva A, Koskela H, Tapper J, Koivisto-Korander R, Joutsiniemi T, Haltia UMLassus H, Hautaniemi S, Farkkila A, Hynninen J, Hietanen S, Carpén O, Kauppi L.
    • Clin Cancer Res. 2023 Feb 20:ccr.22.3156. doi: 10.1158/1078-0432.CCR-22-3156. Epub ahead of print.

    • A de novo ERBB3 mutation resulted in Olaparib resistance after successful conversion therapy for a GBC patient bearing BRCA1 mutation.
    • Yang JX, Jia ZY, Liu FT, Wu WG, Li XC, Zou L, Li HF, Zhang F, Bao RF, Peng SY, Lau WY, Liu Y, Li ML, Liu YB.
    • Front Oncol. 2023 Feb 20;13:1078388. doi: 10.3389/fonc.2023.1078388.

    • Sacituzumab govitecan and radiotherapy in metastatic, triple-negative, and BRCA-mutant breast cancer patient with active brain metastases: A case report.
    • di Mauro P, Schivardi G, Pedersini R, Laini L, Esposito A, Amoroso V, Laganà M, Grisanti S, Cosentini D, Berruti A.
    • Front Oncol. 2023 Feb 20;13:1139372. doi: 10.3389/fonc.2023.1139372.

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    • Clinical and molecular signature of survival and resistance to olaparib plus pegylated liposomal doxorubicin in platinum-resistant ovarian cancer: a stratified analysis from the phase II clinical trial ROLANDO, GEICO-1601.
    • Perez-Fidalgo JA, Guerra E, García Y, Iglesias M, Hernández-Sosa M, Estevez-García P, Manso Sánchez L, Santaballa A, Oaknin A, Redondo A, Rubio MJ, González-Martín A.
    • Int J Gynecol Cancer. 2023 Feb 9:ijgc-2022-004028. doi: 10.1136/ijgc-2022-004028. Epub ahead of print.

    • Survival outcomes in patients with BRCA mutated, variant of unknown significance, and wild type ovarian cancer treated with PARP inhibitors.
    • Musacchio L, Boccia S, Marchetti C, Minucci A, Camarda F, Cassani C, Ventriglia J, Salutari V, Ghizzoni V, Giudice E, Perri MT, Carbone MV, Ricci C, Pignata S, Fagotti A, Scambia G, Lorusso D.
    • Int J Gynecol Cancer. 2023 Feb 9:ijgc-2022-003903. doi: 10.1136/ijgc-2022-003903. Epub ahead of print.

    • Contralateral lymph node metastasis in recurrent ipsilateral breast cancer with Lynch syndrome: a locoregional event.
    • Zwimpfer TA, Schwab FD, Steffens D, Kaul F, Schmidt N, Geiger J, Geissler F, Heinzelmann-Schwarz V, Weber WP, Kurzeder C.
    • World J Surg Oncol. 2023 Feb 9;21(1):40. doi: 10.1186/s12957-023-02918-w.

    • Study on TFF1 and PALB2 gene variants associated with gastric carcinoma risk in the Chinese Han population.
    • Zou W, Zhang Q, Sun R, Li X, He S.
    • Cancer Epidemiol. 2023 Feb 7;83:102333. doi: 10.1016/j.canep.2023.102333. Epub ahead of print.

    • Atypical ATMs: Broadening the Phenotypic Spectrum of ATM-associated Hereditary Cancer.
    • Borja NA, Silva-Smith R, Huang M, Parekh DJ, Sussman D, Tekin M.
    • Front Oncol. 2023 Feb 3;13:1068110. doi: 10.3389/fonc.2023.1068110.

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    • Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.
    • Galland L, Roussot N, Desmoulins I, Mayeur D, Kaderbhai C, Ilie S, Hennequin A, Reda M, Albuisson J, Arnould L, Boidot R, Truntzer C, Ghiringhelli F, Ladoire S.
    • Cancers (Basel). 2023 Feb 17;15(4):1299. doi: 10.3390/cancers15041299.

    • Drugmakers Pushing Frontline PARP Inhibitor Combos for All mCRPC Patients Amid Oncologists' Concerns.
    • Hopkins C.
    • Precision Oncology News. 2023 Feb 17.
    • Press

    • Molecular dynamics simulations reveal the effect of mutations in the RING domains of BRCA1-BARD1 complex and its relevance to the prognosis of breast cancer.
    • Kiewhuo K, Priyadarsinee L, Sarma H, Sastry GN.
    • J Biomol Struct Dyn. 2023 Feb 12:1-19. doi: 10.1080/07391102.2023.2175383. Epub ahead of print.

    • A Phase I Study of Combination Olaparib and Radium-223 in Men with Metastatic Castration-Resistant Prostate Cancer (mCRPC) with Bone Metastases (COMRADE).
    • Pan E, Xie W, Ajmera A, Araneta A, Jamieson C, Folefac E, Hussain A, Kyriakopoulos CE, Olson A, Parikh M, Parikh R, Saraiya B, Ivy SP, Van Allen EM, Lindeman NI, Kochupurakkal BS, Shapiro GI, McKay RR.
    • Mol Cancer Ther. 2023 Feb 10:MCT-22-0583. doi: 10.1158/1535-7163.MCT-22-0583. Epub ahead of print.

    • Dr. Walden on the RNA Expression of Homologous Recombination Genes in CRC.
    • Walden D.
    • OncLive. OncLive TV. 2023 Feb 10.

    • Genetic susceptibility in children, adolescents, and young adults diagnosed with soft-tissue sarcomas.
    • Würtemberger J, Ripperger T, Vokuhl C, Bauer S, Teichert-von Lüttichau I, Wardelmann E, Niemeyer C, Kratz CP, Schlegelberger B, Hettmer S.
    • Eur J Med Genet. 2023 Feb 8:104718. doi: 10.1016/j.ejmg.2023.104718. Epub ahead of print.
    • Review

    • Novel Candidate loci and Pathogenic Germline Variants Involved in Familial Hematological Malignancies Revealed by Whole-Exome Sequencing.
    • Andrés-Zayas C, Suárez-González J, Chicano-Lavilla M, Bastos Oreiro M, Rodríguez-Macías G, Font López P, Osorio Prendes S, Oarbeascoa Royuela G, García Ramírez P, Nieves Salgado R, Gómez-Centurión I, Carbonell Muñoz D, Muñiz P, Kwon M, Díez-Martín JL, Buño I, Martínez-Laperche C.
    • Cancers (Basel). 2023 Feb 2;15(3):944. doi: 10.3390/cancers15030944.

    • Uterine Cavity Lavage Mutation Analysis in Lithuanian Ovarian Cancer Patients.
    • Žilovic D, Vaicekauskaite I, Ciurliene R, Sabaliauskaite R, Jarmalaite S.
    • Cancers (Basel). 2023 Jan 30;15(3):868. doi: 10.3390/cancers15030868.

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    • Potential Impact of PI3K-AKT Signaling Pathway Genes, KLF-14, MDM4, miRNAs 27a, miRNA-196a Genetic Alterations in the Predisposition and Progression of Breast Cancer Patients.
    • Alzahrani OR, Mir R, Alatwi HE, Hawsawi YM, Alharbi AA, Alessa AH, Albalawi ES, Elfaki I, Alalawi Y, Moharam L, El-Ghaiesh SH.
    • Cancers (Basel). 2023 Feb 17;15(4):1281. doi: 10.3390/cancers15041281.

    • Das familiäre Pankreaskarzinomsyndrom [Familial pancreatic cancer syndrome].
    • Seifert L, Weitz J.
    • Chirurgie (Heidelb). 2023 Feb 17. German. doi: 10.1007/s00104-023-01819-8. Epub ahead of print.
    • Review. [Article in German]

    • Multi-maintenance olaparib therapy in relapsed, germline BRCA1/2-mutant high-grade serous ovarian cancer (MOLTO): a phase II trial.
    • Morgan RD, Clamp AR, White DJ, Price M, Burghel GJ, Ryder WDJ, Mahmood RD, Murphy AD, Hasan J, Mitchell CL, Salih Z, Wheeler C, Buckley E, Truelove J, King G, Ainaoui Y, Bhaskar SS, Shaw J, Evans DGR, Kilerci B, Pearce SP, Brady G, Dive C, O'Connor JPB, Wallace AJ, Rothwell DG, Edmondson RJ, Jayson GC.
    • Clin Cancer Res. 2023 Feb 17:CCR-22-3282. doi: 10.1158/1078-0432.CCR-22-3282. Epub ahead of print.

    Related:

    •• Identifier: NCT02855697: Multi-maintenance Olaparib After Disease Recurrence in Participants With Platinum Sensitive BRCAm High Grade Serous Ovarian Cancer (MOLTO). (ClinicalTrials.gov . Accessed 2023 Feb 18.)

    • Association of FANCM Mutations with Familial and Early-Onset Breast Cancer Risk in a South American Population.
    • Morales-Pison S, Morales-González S, Fernandez-Ramires R, Tapia JC, Maldonado E, Calaf GM, Jara L.
    • Int J Mol Sci. 2023 Feb 17;24(4):4041. doi: 10.3390/ijms24044041.

    • Niraparib Plus Abiraterone/Prednisone Maintains rPFS Benefit in HRR Gene–Altered mCRPC.
    • Wrigley N.
    • OncLive. 2023 Feb 17.

    Related:

    •• Identifier: NCT03748641: A Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for Treatment of Participants With Metastatic Prostate Cancer (MAGNITUDE). (ClinicalTrials.gov . Accessed 2023 Feb 18.)

    • Updates in Gynecologic Care for Individuals with Lynch Syndrome.
    • Underkofler KA, Ring K.
    • Front Oncol. 2023 Feb 16;13:1127683. doi: 10.3389/fonc.2023.1127683.

    • Rucaparib or Physician's Choice in Metastatic Prostate Cancer.
    • Fizazi K, Piulats JM, Reaume MN, Ostler P, McDermott R, Gingerich JR, Pintus E, Sridhar SS, Bambury RM, Emmenegger U, Lindberg H, Morris D, Nolè F, Staffurth J, Redfern C, Sáez MI, Abida W, Daugaard G, Heidenreich A, Krieger L, Sautois B, Loehr A, Despain D, Heyes CA, Watkins SP, Chowdhury S, Ryan CJ, Bryce AH; TRITON3 Investigators.
    • N Engl J Med. 2023 Feb 16. doi: 10.1056/NEJMoa2214676. Epub ahead of print.

    Related:

    •• Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2023 Feb 16.)

    •• Research news: Rucaparib Bests Physician's Choice for BRCA+ mCRPC. (OncLive)

    • Diagnosis, Management, and Surveillance for Patients with PALB2, CHEK2, and ATM Gene Mutations.
    • Fencer MG, Krupa KA, Bleich GC, Grumet S, Eladoumikdachi FG, Kumar S, Kowzun MJ, Potdevin LB.
    • Clin Breast Cancer. 2023 Feb 15:S1526-8209(23)00034-4. doi: 10.1016/j.clbc.2023.02.004. Epub ahead of print.

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    • Rucaparib or Physician's Choice in Metastatic Prostate Cancer.
    • Fizazi K, Piulats JM, Reaume MN, Ostler P, McDermott R, Gingerich JR, Pintus E, Sridhar SS, Bambury RM, Emmenegger U, Lindberg H, Morris D, Nolè F, Staffurth J, Redfern C, Sáez MI, Abida W, Daugaard G, Heidenreich A, Krieger L, Sautois B, Loehr A, Despain D, Heyes CA, Watkins SP, Chowdhury S, Ryan CJ, Bryce AH; TRITON3 Investigators.
    • N Engl J Med. 2023 Feb 16. doi: 10.1056/NEJMoa2214676. Epub ahead of print.

    Related:

    •• Identifier: NCT02975934: A Study of Rucaparib Versus Physician's Choice of Therapy in Patients With Metastatic Castration-resistant Prostate Cancer and Homologous Recombination Gene Deficiency (TRITON3). (ClinicalTrials.gov . Accessed 2023 Feb 16.)

    • Abiraterone/Olaparib Benefit Is Sustained in Final OS Analysis for mCRPC.
    • Clarke NW, Lovely B.
    • OncLive. 2023 Feb 16.

    Related:

    •• Identifier: NCT03732820: Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer. (ClinicalTrials.gov . Accessed 2023 Feb 16.)

    • Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
    • Jasiak A, Koczkowska M, Stukan M, Wydra D, Biernat W, Izycka-Swieszewska E, Buczkowski K, Eccles MR, Walker L, Wasag B, Ratajska M.
    • Exp Mol Pathol. 2023 Feb 13:104856. doi: 10.1016/j.yexmp.2023.104856. Epub ahead of print.

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    • Abiraterone/Olaparib Benefit Is Sustained in Final OS Analysis for mCRPC.
    • Clarke NW, Lovely B.
    • OncLive. 2023 Feb 16.

    Related:

    •• Identifier: NCT03732820: Study on Olaparib Plus Abiraterone as First-line Therapy in Men With Metastatic Castration-resistant Prostate Cancer. (ClinicalTrials.gov . Accessed 2023 Feb 16.)

    • Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
    • Jasiak A, Koczkowska M, Stukan M, Wydra D, Biernat W, Izycka-Swieszewska E, Buczkowski K, Eccles MR, Walker L, Wasag B, Ratajska M.
    • Exp Mol Pathol. 2023 Feb 13:104856. doi: 10.1016/j.yexmp.2023.104856. Epub ahead of print.

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    • Prostate cancer and novel pharmacological treatment options - what's new for 2022?
    • Marchetti A, Tassinari E, Rosellini M, Rizzo A, Massari F, Mollica V.
    • Expert Rev Clin Pharmacol. 2023 Feb 15. doi: 10.1080/17512433.2023.2181783. Epub ahead of print.
    • Review

    • Uptake and Effectiveness of Risk-Reducing Surgeries in Unaffected Female BRCA1 and BRCA2 Carriers: A Single Institution Experience in the Czech Republic.
    • Zimovjanova M, Bielcikova Z, Miskovicova M, Vocka M, Zimovjanova A, Marian Rybar M, Novotny J, Petruzelka L.
    • Cancers (Basel). 2023 Feb 8;15(4):1072. doi: 10.3390/cancers15041072.

    • Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
    • D’Elia G, Caliendo G, Passariello L, Albanese L, Makker J, Molinari AM, Vietri MT.
    • Genes (Basel). 2023 Feb 8;14(2):428. doi: 10.3390/genes14020428.

    • Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.
    • Alghanim HM, Eltawel M, Alhaidari AI, Alobaid MM, Moghairi AM, Sufiani F, Ahmad N.
    • Pediatr Hematol Oncol. 2023 Feb 2:1-8. doi: 10.1080/08880018.2022.2154417. Epub ahead of print.
    • Case report

    • BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity.
    • Wu B, Qi L, Chiang HC, Pan H, Zhang X, Greenbaum A, Stark E, Wang LJ, Chen Y, Haddad BR, Clagett D, Isaacs C, Elledge R, Horvath A, Hu Y, Li R.
    • J Immunother Cancer. 2023 Feb;11(2):e005852. doi: 10.1136/jitc-2022-005852.

    • Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.
    • Yoon JK, Ahn J, Kim S, Kim HP, Kang JK, Bang D, Lim Y, Kim TY.
    • Cancer Res Treat. 2023 Jan 31. doi: 10.4143/crt.2022.1529. Epub ahead of print.

    • Systemic Therapies for Metastatic Castration-Resistant Prostate Cancer: An Updated Review.
    • Hatano K, Nonomura N.
    • World J Mens Health. 2023 Jan 27. doi: 10.5534/wjmh.220200. Epub ahead of print.

    • Association of Reported Candidate Monogenic Genes With Lung Cancer Risk.
    • Rifkin AS, Less EM, Wei J, Shi Z, Zheng SL, Helfand BT, Hulick PJ, Krantz SB, Xu J.
    • Clin Lung Cancer. 2023 Jan 26:S1525-7304(23)00009-8. doi: 10.1016/j.cllc.2023.01.005. Epub ahead of print.

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    • Uptake and Effectiveness of Risk-Reducing Surgeries in Unaffected Female BRCA1 and BRCA2 Carriers: A Single Institution Experience in the Czech Republic.
    • Zimovjanova M, Bielcikova Z, Miskovicova M, Vocka M, Zimovjanova A, Marian Rybar M, Novotny J, Petruzelka L.
    • Cancers (Basel). 2023 Feb 8;15(4):1072. doi: 10.3390/cancers15041072.

    • Hereditary Cancer Syndrome in a Family with Double Mutation in BRIP1 and MUTYH Genes.
    • D’Elia G, Caliendo G, Passariello L, Albanese L, Makker J, Molinari AM, Vietri MT.
    • Genes (Basel). 2023 Feb 8;14(2):428. doi: 10.3390/genes14020428.

    • Multiple synchronous malignancies in an infant with concomitant homozygous BRCA2 and PMS2 mutations with Fanconi anemia phenotype.
    • Alghanim HM, Eltawel M, Alhaidari AI, Alobaid MM, Moghairi AM, Sufiani F, Ahmad N.
    • Pediatr Hematol Oncol. 2023 Feb 2:1-8. doi: 10.1080/08880018.2022.2154417. Epub ahead of print.
    • Case report

    • BRCA1 deficiency in mature CD8+ T lymphocytes impairs antitumor immunity.
    • Wu B, Qi L, Chiang HC, Pan H, Zhang X, Greenbaum A, Stark E, Wang LJ, Chen Y, Haddad BR, Clagett D, Isaacs C, Elledge R, Horvath A, Hu Y, Li R.
    • J Immunother Cancer. 2023 Feb;11(2):e005852. doi: 10.1136/jitc-2022-005852.

    • Efficacy of Olaparib in Treatment-Refractory, Metastatic Breast Cancer with Uncommon Somatic BRCA Mutations Detected in Circulating Tumor DNA.
    • Yoon JK, Ahn J, Kim S, Kim HP, Kang JK, Bang D, Lim Y, Kim TY.
    • Cancer Res Treat. 2023 Jan 31. doi: 10.4143/crt.2022.1529. Epub ahead of print.

    • Systemic Therapies for Metastatic Castration-Resistant Prostate Cancer: An Updated Review.
    • Hatano K, Nonomura N.
    • World J Mens Health. 2023 Jan 27. doi: 10.5534/wjmh.220200. Epub ahead of print.

    • Association of Reported Candidate Monogenic Genes With Lung Cancer Risk.
    • Rifkin AS, Less EM, Wei J, Shi Z, Zheng SL, Helfand BT, Hulick PJ, Krantz SB, Xu J.
    • Clin Lung Cancer. 2023 Jan 26:S1525-7304(23)00009-8. doi: 10.1016/j.cllc.2023.01.005. Epub ahead of print.

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    • Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in BRCA2.
    • Mayoral I, Almeida Santiago A, Sánchez-Zapardiel JM, Hidalgo Calero B, de la Hoya M, Gómez-Sanz A, de Miguel Reyes M, Robles L.
    • Genes (Basel). 2023 Feb 15;14(2):502. doi: 10.3390/genes14020502.

    • Early diagnosis of ovarian cancer based on methylation profiles in peripheral blood cell-free DNA: a systematic review.
    • Terp SK, Stoico MP, Dybkær K, Pedersen IS.
    • Clin Epigenetics. 2023 Feb 14;15(1):24. doi: 10.1186/s13148-023-01440-w.

    • OlympiAD extended follow-up for overall survival and safety: olaparib versus chemotherapy treatment of physician’s choice in patients with a germline BRCA mutation and HER2-negative metastatic breast cancer.
    • Robson ME, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, Delaloge S, Tung N, Armstrong A, Dymond M, Fielding A, Allen A, Conte P.
    • Eur J Cancer. 2023 Feb 14. doi: 10.1016/j.ejca.2023.01.031. Epub ahead of print.

    • PARP inhibitor-related hemorrhages:What does the real-world study say?
    • Wang S, Guo M, Fan P, Jin Z.
    • Front Oncol. 2023 Feb 14;13:1070343. doi: 10.3389/fonc.2023.1070343.

    • Long-term Data for Niraparib Support Continued Use of PARP Inhibitors in HRD+ Ovarian Cancer.
    • Roque DR, Scott R.
    • OncLive. 2023 Feb 14.

    • PARP inhibitors in the treatment of ARID1A mutant ovarian clear cell cancer: PI3K/Akt1-dependent mechanism of synthetic lethality.
    • Yakovlev V, Sullivan SA, Fields E, Temkin SM.
    • Front Oncol. 2023 Feb 13;13:1124147. doi: 10.3389/fonc.2023.1124147.

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    • Breast Cancer Screening Utilization and Outcomes in Women with Neurofibromatosis Type 1.
    • Yan K, Gao Y, Heller SL.
    • Clin Breast Cancer. 2023 Feb 12:S1526-8209(23)00035-6. doi: 10.1016/j.clbc.2023.02.005. Epub ahead of print.

    • Risks of second non-breast primaries following breast cancer in women: a systematic review and meta-analysis.
    • Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC.
    • Breast Cancer Res. 2023 Feb 10;25(1):18. doi: 10.1186/s13058-023-01610-x.

    • Prophylactic Radical Fimbriectomy with Delayed Oophorectomy in Women with a High Risk of Developing an Ovarian Carcinoma: Results of a Prospective National Pilot Study.
    • Leblanc E, Narducci F, Ferron G, Mailliez A, Charvolin JY, El Hajj H, Guyon F, Fourchotte V, Lambaudie E, Crouzet A, Fouche Y, Gouy S, Collinet P, Caquant F, Pomel C, Golfier F, Vaini-Cowen V, Fournier I, Salzet M, Tresch E, Probst A, Lemaire AS, Le Deley MC, Hudry D.
    • Cancers (Basel). 2023 Feb 10;15(4):1141. doi: 10.3390/cancers15041141.

    Related:

    •• Identifier: NCT01608074: Radical Fimbriectomy for Young BRCA Mutation Carriers (Fimbriectomy). (ClinicalTrials.gov . Accessed 2023 Feb 12.)