U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PALB2 Biallelic Inactivation

MedGen UID:
1659899
•Concept ID:
C4725849
•
Cell or Molecular Dysfunction
Synonyms: FANCN Biallelic Gene Inactivation; Fanconi Anemia, Complementation Group N Biallelic Gene Inactivation; PALB2 Biallelic Gene Inactivation; Partner and Localizer of BRCA2 Biallelic Gene Inactivation; PNCA3 Biallelic Gene Inactivation

Definition

The presence of mutations in both alleles of the PALB2 gene that either lead to loss of expression of the PALB2 protein or result in the translation of an inactive PALB2 protein. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPALB2 Biallelic Inactivation

Recent clinical studies

Etiology

Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival.
Kahn RM, Selenica P, Boerner T, Roche KL, Xiao Y, Sia TY, Maio A, Kemel Y, Sheehan M, Salo-Mullen E, Breen KE, Zhou Q, Iasonos A, Grisham RN, O'Cearbhaill RE, Chi DS, Berger MF, Kundra R, Schultz N, Ellenson LH, Stadler ZK, Offit K, Mandelker D, Aghajanian C, Zamarin D, Sabbatini P, Weigelt B, Liu YL
Gynecol Oncol 2024 Jan;180:35-43. Epub 2023 Dec 1 doi: 10.1016/j.ygyno.2023.11.019. PMID: 38041901Free 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
Pan-cancer landscape of homologous recombination deficiency.
Nguyen L, W M Martens J, Van Hoeck A, Cuppen E
Nat Commun 2020 Nov 4;11(1):5584. doi: 10.1038/s41467-020-19406-4. PMID: 33149131Free PMC Article
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
Ovarian cancer genome.
Imyanitov EN
Methods Mol Biol 2013;1049:3-7. doi: 10.1007/978-1-62703-547-7_1. PMID: 23913204

Diagnosis

Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival.
Kahn RM, Selenica P, Boerner T, Roche KL, Xiao Y, Sia TY, Maio A, Kemel Y, Sheehan M, Salo-Mullen E, Breen KE, Zhou Q, Iasonos A, Grisham RN, O'Cearbhaill RE, Chi DS, Berger MF, Kundra R, Schultz N, Ellenson LH, Stadler ZK, Offit K, Mandelker D, Aghajanian C, Zamarin D, Sabbatini P, Weigelt B, Liu YL
Gynecol Oncol 2024 Jan;180:35-43. Epub 2023 Dec 1 doi: 10.1016/j.ygyno.2023.11.019. PMID: 38041901Free PMC Article
Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.
Golan T, O'Kane GM, Denroche RE, Raitses-Gurevich M, Grant RC, Holter S, Wang Y, Zhang A, Jang GH, Stossel C, Atias D, Halperin S, Berger R, Glick Y, Park JP, Cuggia A, Williamson L, Wong HL, Schaeffer DF, Renouf DJ, Borgida A, Dodd A, Wilson JM, Fischer SE, Notta F, Knox JJ, Zogopoulos G, Gallinger S
Gastroenterology 2021 May;160(6):2119-2132.e9. Epub 2021 Jan 30 doi: 10.1053/j.gastro.2021.01.220. PMID: 33524400
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
Pan-cancer landscape of homologous recombination deficiency.
Nguyen L, W M Martens J, Van Hoeck A, Cuppen E
Nat Commun 2020 Nov 4;11(1):5584. doi: 10.1038/s41467-020-19406-4. PMID: 33149131Free PMC Article
Ovarian cancer genome.
Imyanitov EN
Methods Mol Biol 2013;1049:3-7. doi: 10.1007/978-1-62703-547-7_1. PMID: 23913204

Therapy

Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.
Golan T, O'Kane GM, Denroche RE, Raitses-Gurevich M, Grant RC, Holter S, Wang Y, Zhang A, Jang GH, Stossel C, Atias D, Halperin S, Berger R, Glick Y, Park JP, Cuggia A, Williamson L, Wong HL, Schaeffer DF, Renouf DJ, Borgida A, Dodd A, Wilson JM, Fischer SE, Notta F, Knox JJ, Zogopoulos G, Gallinger S
Gastroenterology 2021 May;160(6):2119-2132.e9. Epub 2021 Jan 30 doi: 10.1053/j.gastro.2021.01.220. PMID: 33524400
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
Personalizing cancer treatment in the age of global genomic analyses: PALB2 gene mutations and the response to DNA damaging agents in pancreatic cancer.
Villarroel MC, Rajeshkumar NV, Garrido-Laguna I, De Jesus-Acosta A, Jones S, Maitra A, Hruban RH, Eshleman JR, Klein A, Laheru D, Donehower R, Hidalgo M
Mol Cancer Ther 2011 Jan;10(1):3-8. Epub 2010 Dec 6 doi: 10.1158/1535-7163.MCT-10-0893. PMID: 21135251Free PMC Article

Prognosis

Copy number alteration features in pan-cancer homologous recombination deficiency prediction and biology.
Yao H, Li H, Wang J, Wu T, Ning W, Diao K, Wu C, Wang G, Tao Z, Zhao X, Chen J, Sun X, Liu XS
Commun Biol 2023 May 16;6(1):527. doi: 10.1038/s42003-023-04901-3. PMID: 37193789Free PMC Article
Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.
Golan T, O'Kane GM, Denroche RE, Raitses-Gurevich M, Grant RC, Holter S, Wang Y, Zhang A, Jang GH, Stossel C, Atias D, Halperin S, Berger R, Glick Y, Park JP, Cuggia A, Williamson L, Wong HL, Schaeffer DF, Renouf DJ, Borgida A, Dodd A, Wilson JM, Fischer SE, Notta F, Knox JJ, Zogopoulos G, Gallinger S
Gastroenterology 2021 May;160(6):2119-2132.e9. Epub 2021 Jan 30 doi: 10.1053/j.gastro.2021.01.220. PMID: 33524400
Pan-cancer landscape of homologous recombination deficiency.
Nguyen L, W M Martens J, Van Hoeck A, Cuppen E
Nat Commun 2020 Nov 4;11(1):5584. doi: 10.1038/s41467-020-19406-4. PMID: 33149131Free PMC Article
Correlation of homologous recombination deficiency induced mutational signatures with sensitivity to PARP inhibitors and cytotoxic agents.
Póti Á, Gyergyák H, Németh E, Rusz O, Tóth S, Kovácsházi C, Chen D, Szikriszt B, Spisák S, Takeda S, Szakács G, Szallasi Z, Richardson AL, Szüts D
Genome Biol 2019 Nov 14;20(1):240. doi: 10.1186/s13059-019-1867-0. PMID: 31727117Free PMC Article
Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.
Nones K, Johnson J, Newell F, Patch AM, Thorne H, Kazakoff SH, de Luca XM, Parsons MT, Ferguson K, Reid LE, McCart Reed AE, Srihari S, Lakis V, Davidson AL, Mukhopadhyay P, Holmes O, Xu Q, Wood S, Leonard C; Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB), Beesley J, Harris JM, Barnes D, Degasperi A, Ragan MA, Spurdle AB, Khanna KK, Lakhani SR, Pearson JV, Nik-Zainal S, Chenevix-Trench G, Waddell N, Simpson PT
Ann Oncol 2019 Jul 1;30(7):1071-1079. doi: 10.1093/annonc/mdz132. PMID: 31090900Free PMC Article

Clinical prediction guides

Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival.
Kahn RM, Selenica P, Boerner T, Roche KL, Xiao Y, Sia TY, Maio A, Kemel Y, Sheehan M, Salo-Mullen E, Breen KE, Zhou Q, Iasonos A, Grisham RN, O'Cearbhaill RE, Chi DS, Berger MF, Kundra R, Schultz N, Ellenson LH, Stadler ZK, Offit K, Mandelker D, Aghajanian C, Zamarin D, Sabbatini P, Weigelt B, Liu YL
Gynecol Oncol 2024 Jan;180:35-43. Epub 2023 Dec 1 doi: 10.1016/j.ygyno.2023.11.019. PMID: 38041901Free PMC Article
Somatic inactivation of breast cancer predisposition genes in tumors 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 2023 Feb 8;115(2):181-189. doi: 10.1093/jnci/djac196. PMID: 36315097Free PMC Article
Genomic Features and Classification of Homologous Recombination Deficient Pancreatic Ductal Adenocarcinoma.
Golan T, O'Kane GM, Denroche RE, Raitses-Gurevich M, Grant RC, Holter S, Wang Y, Zhang A, Jang GH, Stossel C, Atias D, Halperin S, Berger R, Glick Y, Park JP, Cuggia A, Williamson L, Wong HL, Schaeffer DF, Renouf DJ, Borgida A, Dodd A, Wilson JM, Fischer SE, Notta F, Knox JJ, Zogopoulos G, Gallinger S
Gastroenterology 2021 May;160(6):2119-2132.e9. Epub 2021 Jan 30 doi: 10.1053/j.gastro.2021.01.220. PMID: 33524400
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

Supplemental Content

Table of contents

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...