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Ref Type Journal Article
PMID (34781271)
Authors Cilento MA, Poplawski NK, Paramasivam S, Thomas DM, Kichenadasse G
Title Germline PALB2 Variants and PARP Inhibitors in Endometrial Cancer.
Journal Vol Issue Date Pages Journal Short Title
Journal of the National Comprehensive Cancer Network : JNCCN 19 11 2021 Nov 1212-1217 J Natl Compr Canc Netw
URL
Abstract Text PARP inhibitors are orally administered antineoplastic agents that affect the homologous recombination (HR) repair pathway, and are approved by the FDA for the treatment of ovarian, breast, pancreatic, and prostate cancers. This report presents a case of recurrent endometrial carcinoma occurring in a woman with a germline pathogenic PALB2 whole-exon deletion. This uncommon finding in a patient with endometrial carcinoma provided the opportunity to use a management strategy of PARP inhibition with olaparib, resulting in a prolonged response to treatment; however, disease progression eventually occurred. Further studies are required to elucidate the mechanisms underlying resistance to PARP inhibition, and the potential future treatment options in this setting. Current recommendations for risk management of female carriers of PALB2 variants focus on breast and ovarian cancer risk. This case raises the additional question of a potential role for risk-reducing hysterectomy in female carriers of PALB2 variants.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 del exon11 endometrial serous adenocarcinoma predicted - sensitive Olaparib Case Reports/Case Series Actionable In a clinical case study, Lynparza (olaparib) treatment resulted in a durable response lasting 23 months in a patient with recurrent serous endometrial carcinoma harboring a germline deletion of PALB2 exon 11 (PMID: 34781271). 34781271