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PALB2-Associated Malignant Neoplasm

MedGen UID:
1780340
•Concept ID:
C5447401
•
Neoplastic Process
Synonym: PALB2-Mutated Malignant Neoplasm

Definition

A malignant neoplasm caused by deleterious germline mutation in the PALB2 gene. This mutation is associated with the development of breast carcinoma and pancreatic carcinoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPALB2-Associated Malignant Neoplasm

Professional guidelines

PubMed

Timing of genetic testing in BRCA1/2 and PALB2-Associated breast cancer: Preoperative result disclosure increases uptake of risk-reducing mastectomy and reduces unnecessary exposure to radiotherapy.
Apostolova C, Ferroum A, Alhassan B, Prakash I, Basik M, Boileau JF, Martel K, Meterissian S, Villareal Corpuz V, Wong N, Foulkes WD, Wong SM
Eur J Surg Oncol 2024 Jun;50(6):108324. Epub 2024 Apr 12 doi: 10.1016/j.ejso.2024.108324. PMID: 38636249

Recent clinical studies

Etiology

Personalized Systemic Therapies in Hereditary Cancer Syndromes.
Mastrodomenico L, Piombino C, Riccò B, Barbieri E, Venturelli M, Piacentini F, Dominici M, Cortesi L, Toss A
Genes (Basel) 2023 Mar 9;14(3) doi: 10.3390/genes14030684. PMID: 36980956Free PMC Article
Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.
Preobrazhenskaya EV, Shleykina AU, Gorustovich OA, Martianov AS, Bizin IV, Anisimova EI, Sokolova TN, Chuinyshena SA, Kuligina ES, Togo AV, Belyaev AM, Ivantsov AO, Sokolenko AP, Imyanitov EN
Int J Cancer 2021 Jan 1;148(1):203-210. Epub 2020 Oct 6 doi: 10.1002/ijc.33317. PMID: 32997802
Molecular analysis of PALB2-associated breast cancers.
Lee JEA, Li N, Rowley SM, Cheasley D, Zethoven M, McInerny S, Gorringe KL, James PA, Campbell IG
J Pathol 2018 May;245(1):53-60. Epub 2018 Mar 30 doi: 10.1002/path.5055. PMID: 29431189
Autophagy opposes p53-mediated tumor barrier to facilitate tumorigenesis in a model of PALB2-associated hereditary breast cancer.
Huo Y, Cai H, Teplova I, Bowman-Colin C, Chen G, Price S, Barnard N, Ganesan S, Karantza V, White E, Xia B
Cancer Discov 2013 Aug;3(8):894-907. Epub 2013 May 6 doi: 10.1158/2159-8290.CD-13-0011. PMID: 23650262Free PMC Article
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
García MJ, Fernández V, Osorio A, Barroso A, Llort G, Lázaro C, Blanco I, Caldés T, de la Hoya M, Ramón Y Cajal T, Alonso C, Tejada MI, San Román C, Robles-Díaz L, Urioste M, Benítez J
Breast Cancer Res Treat 2009 Feb;113(3):545-51. Epub 2008 Feb 27 doi: 10.1007/s10549-008-9945-0. PMID: 18302019

Diagnosis

Timing of genetic testing in BRCA1/2 and PALB2-Associated breast cancer: Preoperative result disclosure increases uptake of risk-reducing mastectomy and reduces unnecessary exposure to radiotherapy.
Apostolova C, Ferroum A, Alhassan B, Prakash I, Basik M, Boileau JF, Martel K, Meterissian S, Villareal Corpuz V, Wong N, Foulkes WD, Wong SM
Eur J Surg Oncol 2024 Jun;50(6):108324. Epub 2024 Apr 12 doi: 10.1016/j.ejso.2024.108324. PMID: 38636249
Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.
Preobrazhenskaya EV, Shleykina AU, Gorustovich OA, Martianov AS, Bizin IV, Anisimova EI, Sokolova TN, Chuinyshena SA, Kuligina ES, Togo AV, Belyaev AM, Ivantsov AO, Sokolenko AP, Imyanitov EN
Int J Cancer 2021 Jan 1;148(1):203-210. Epub 2020 Oct 6 doi: 10.1002/ijc.33317. PMID: 32997802

Therapy

Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.
Preobrazhenskaya EV, Shleykina AU, Gorustovich OA, Martianov AS, Bizin IV, Anisimova EI, Sokolova TN, Chuinyshena SA, Kuligina ES, Togo AV, Belyaev AM, Ivantsov AO, Sokolenko AP, Imyanitov EN
Int J Cancer 2021 Jan 1;148(1):203-210. Epub 2020 Oct 6 doi: 10.1002/ijc.33317. PMID: 32997802

Clinical prediction guides

Frequency and molecular characteristics of PALB2-associated cancers in Russian patients.
Preobrazhenskaya EV, Shleykina AU, Gorustovich OA, Martianov AS, Bizin IV, Anisimova EI, Sokolova TN, Chuinyshena SA, Kuligina ES, Togo AV, Belyaev AM, Ivantsov AO, Sokolenko AP, Imyanitov EN
Int J Cancer 2021 Jan 1;148(1):203-210. Epub 2020 Oct 6 doi: 10.1002/ijc.33317. PMID: 32997802
Molecular analysis of PALB2-associated breast cancers.
Lee JEA, Li N, Rowley SM, Cheasley D, Zethoven M, McInerny S, Gorringe KL, James PA, Campbell IG
J Pathol 2018 May;245(1):53-60. Epub 2018 Mar 30 doi: 10.1002/path.5055. PMID: 29431189

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