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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

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

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
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
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
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
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

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
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

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

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
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

Supplemental Content

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