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PALB2-Related Disorders

MedGen UID:
893597
•Concept ID:
CN239408
•
Disease or Syndrome

Recent clinical studies

Etiology

The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.
Brown TJ, Yablonovitch A, Till JE, Yen J, Kiedrowski LA, Hood R, O'Hara MH, Teitelbaum U, Karasic TB, Schneider C, Carpenter EL, Nathanson K, Domchek SM, Reiss KA
Clin Cancer Res 2023 Dec 15;29(24):5207-5216. doi: 10.1158/1078-0432.CCR-23-1467. PMID: 37486343Free PMC Article
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
Zhong Y, Schubert J, Wu J, Xu F, Lin F, Cao K, Zelley K, Luo M, Foster JB, Cole KA, MacFarland SP, Resnick AC, Storm PB, Li MM
Cold Spring Harb Mol Case Stud 2020 Aug;6(4) Epub 2020 Aug 25 doi: 10.1101/mcs.a005397. PMID: 32554798Free PMC Article
Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.
Zhou J, Wang H, Fu F, Li Z, Feng Q, Wu W, Liu Y, Wang C, Chen Y
Cancer 2020 Jul 15;126(14):3202-3208. Epub 2020 Apr 27 doi: 10.1002/cncr.32905. PMID: 32339256Free PMC Article
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.
Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS
J Hum Genet 2020 Jan;65(2):199-205. Epub 2019 Oct 16 doi: 10.1038/s10038-019-0680-7. PMID: 31619740
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
Wark L, Novak D, Sabbaghian N, Amrein L, Jangamreddy JR, Cheang M, Pouchet C, Aloyz R, Foulkes WD, Mai S, Tischkowitz M
Genes Chromosomes Cancer 2013 May;52(5):480-94. Epub 2013 Jan 23 doi: 10.1002/gcc.22045. PMID: 23341105

Diagnosis

The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.
Brown TJ, Yablonovitch A, Till JE, Yen J, Kiedrowski LA, Hood R, O'Hara MH, Teitelbaum U, Karasic TB, Schneider C, Carpenter EL, Nathanson K, Domchek SM, Reiss KA
Clin Cancer Res 2023 Dec 15;29(24):5207-5216. doi: 10.1158/1078-0432.CCR-23-1467. PMID: 37486343Free PMC Article
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
Wark L, Novak D, Sabbaghian N, Amrein L, Jangamreddy JR, Cheang M, Pouchet C, Aloyz R, Foulkes WD, Mai S, Tischkowitz M
Genes Chromosomes Cancer 2013 May;52(5):480-94. Epub 2013 Jan 23 doi: 10.1002/gcc.22045. PMID: 23341105

Therapy

The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.
Brown TJ, Yablonovitch A, Till JE, Yen J, Kiedrowski LA, Hood R, O'Hara MH, Teitelbaum U, Karasic TB, Schneider C, Carpenter EL, Nathanson K, Domchek SM, Reiss KA
Clin Cancer Res 2023 Dec 15;29(24):5207-5216. doi: 10.1158/1078-0432.CCR-23-1467. PMID: 37486343Free PMC Article

Prognosis

The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.
Brown TJ, Yablonovitch A, Till JE, Yen J, Kiedrowski LA, Hood R, O'Hara MH, Teitelbaum U, Karasic TB, Schneider C, Carpenter EL, Nathanson K, Domchek SM, Reiss KA
Clin Cancer Res 2023 Dec 15;29(24):5207-5216. doi: 10.1158/1078-0432.CCR-23-1467. PMID: 37486343Free PMC Article
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.
Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS
J Hum Genet 2020 Jan;65(2):199-205. Epub 2019 Oct 16 doi: 10.1038/s10038-019-0680-7. PMID: 31619740

Clinical prediction guides

The Clinical Implications of Reversions in Patients with Advanced Pancreatic Cancer and Pathogenic Variants in BRCA1, BRCA2, or PALB2 after Progression on Rucaparib.
Brown TJ, Yablonovitch A, Till JE, Yen J, Kiedrowski LA, Hood R, O'Hara MH, Teitelbaum U, Karasic TB, Schneider C, Carpenter EL, Nathanson K, Domchek SM, Reiss KA
Clin Cancer Res 2023 Dec 15;29(24):5207-5216. doi: 10.1158/1078-0432.CCR-23-1467. PMID: 37486343Free PMC Article
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
Zhong Y, Schubert J, Wu J, Xu F, Lin F, Cao K, Zelley K, Luo M, Foster JB, Cole KA, MacFarland SP, Resnick AC, Storm PB, Li MM
Cold Spring Harb Mol Case Stud 2020 Aug;6(4) Epub 2020 Aug 25 doi: 10.1101/mcs.a005397. PMID: 32554798Free PMC Article
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.
Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS
J Hum Genet 2020 Jan;65(2):199-205. Epub 2019 Oct 16 doi: 10.1038/s10038-019-0680-7. PMID: 31619740
Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.
Wark L, Novak D, Sabbaghian N, Amrein L, Jangamreddy JR, Cheang M, Pouchet C, Aloyz R, Foulkes WD, Mai S, Tischkowitz M
Genes Chromosomes Cancer 2013 May;52(5):480-94. Epub 2013 Jan 23 doi: 10.1002/gcc.22045. PMID: 23341105

Recent systematic reviews

A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.
Janssen B, Bellis S, Koller T, Tischkowitz M, Liau SS
J Hum Genet 2020 Jan;65(2):199-205. Epub 2019 Oct 16 doi: 10.1038/s10038-019-0680-7. PMID: 31619740

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