Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 2.1 (5-Year IF – 2.0)
Journal Citation Indicator (JCI) (2023) – 0.4
Scopus CiteScore – 3.7 (CiteScore Tracker 3.3)
Index Copernicus  – 161.11; MNiSW – 70 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
Periodicity – monthly

Download original text (EN)

Advances in Clinical and Experimental Medicine

2017, vol. 26, nr 2, March-April, p. 339–342

doi: 10.17219/acem/59147

Publication type: original article

Language: English

Download citation:

  • BIBTEX (JabRef, Mendeley)
  • RIS (Papers, Reference Manager, RefWorks, Zotero)

The risk of breast cancer due to PALB2 gene mutations

Marta Wesoła1,A,B,C,D, Michał Jeleń1,E,F

1 Department of Pathomorphology and Oncological Cytology, Wroclaw Medical University, Poland


Mutations in the PALB2 gene are a predisposing factor to the development of breast cancer. PALB2 gene mutations have been detected in most breast cancer populations, but due to the rarity of their occurrence and the lack of information about their penetrance, they present a challenge when providing genetic counseling for families that have a history of breast cancer. The occurrence rate of PALB2 mutations ranges from 0.1% to 1.5% depending on the population. Despite the rarity of this mutation, information on the status of PALB2 mutations in carriers of this gene, as well as for members of their families who may be carriers, is of the utmost importance for clinical reasons, because these mutations are a high risk factor for breast cancer. There is a defined incidence of PALB2 mutations in patients with breast cancer and negative BRCA1/BRCA2. People with a high risk of breast cancer and negative BRCA1/BRCA2 should be tested for PALB2 mutations.

Key words

PALB2, breast cancer, gene mutation

References (30)

  1. Xia B, Sheng Q, Nakanishi K, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell. 2006;22: 719–729.
  2. Zhang Y, Wang X, Kang S, Li X, Geng J. Common variants in the PALB2 gene confer susceptibility to breast cancer: A meta-analysis. Asian Pac J Cancer Prev. 2013;14:7149–7154.
  3. Dansonka-Mieszkowska A, Kluska A, Moes, et al. A novel germline PALB2 deletion in Polish breast and ovarian cancer patients. Medical Genetics. 2010;11(20):1–9.
  4. Zhang F, Ma J, Wu J, Ye L, et al. PALB2 links BRCA1 and BRCA2 in the DNA-damage response. Curr Biol. 2009;19:524–529.
  5. Haanpää M, Pylkäs K, Jukka S Moilanen JS, Winqvist R. Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families. Medical Genetics. 2013;14(82):1–6.
  6. Teo ZL, Provenzano E, Dite GS, et al. Tumour morphology predicts PALB2 germline mutation status. Br J Cancer. 2013;109(1):154–163.
  7. Rahman N, Seal S, Thompson D, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39:165–167.
  8. Hartley T, Cavallone L, Sabbaghian N, Silva-Smith R, Hamel N, et al. Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada. Hered Cancer Clin Pract. 2014; 12(19):1–9.
  9. Foulkes WD, Ghadirian P, Akbari MR, et al. Identification of a novel truncating PALB2 mutation and analysis of its contribution to earlyonset breast cancer in French-Canadian women. Breast Cancer Res. 2007;9:R83.
  10. Tischkowitz M, Xia B, Sabbaghian N, et al. Analysis of PALB2/FANCN associated breast cancer families. Proc Natl Acad Sci USA. 2007;104: 6788–6793.
  11. Garcia MJ, Fernandez V, Osorio A, et al. Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families. Breast Cancer Res Treat. 2009;113:545–551.
  12. Cao AY, Huang J, Hu Z, et al. The prevalence of PALB2 germline mutations in BRCA1/BRCA2 negative Chinese women with early onset breast cancer or affected relatives. Breast Cancer Res Treat. 2009; 114:457–462.
  13. Bogdanova N, Sokolenko AP, et al. PALB2 an and Russimutations in German patients with bilateral breast cancer. Breast Cancer Res Treat. 2011;126(2):545–550.
  14. Casadei S, Norquist BM, Walsh T, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 2011;71(6):2222–2229.
  15. Nikkilä J, Parplys AC, Pylkäs K, et al. Heterozygous mutations in PALB2 cause DNA replication and damage response defects. Nat Commun. 2013;4(2578):1–8.
  16. Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506.
  17. Gunnarsson H, Arason A, Gillanders EM, et al. Evidence against PALB2 involvement in Icelandic breast cancer susceptibility. J Negat Results Biomed. 2008;7(5):1–4.
  18. Poumpouridou N, Kroupis C. Hereditary breast cancer: Beyond BRCA genetic analysis; PALB2 emerges. Clin Chem Lab Med. 2011; 50(3):423–434.
  19. Smith EC: PALB2 and the risks for cancer: Implications for clinical care. Oncol Nurs Forum. 2015;42:100–102.
  20. Tischkowitz M, Capanu M, Sabbaghian N, et al. Rare germline mutations in PALB2 and breast cancer risk: A population-based study. Hum Mutat. 2012;33(4):674–680.
  21. Janatova M, Kleibl Z, Stribrna J, et al. The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer. Cancer Epidemiol Biomarkers Prev. 2013;22(12): 2323–2332.
  22. Southey MC, Teo ZL, Dowty JG, et al. A PALB2 mutation associated with high risk of breast cancer. Breast Cancer Research. 2010; 12(R109):1–10.
  23. Heikkinen T, Kärkkäinen H, Aaltonen K, et al. The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumor phenotype. Clin Cancer Res. 2009; 15(9):3214–3222.
  24. Fernandes PH, Saam J, Peterson J, et al. Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer. Cancer. 2014; 120(7):963–967.
  25. Blanco A, de la Hoya M, Osorio A, et al. Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PLoS One. 2013; 8(7):e67538.
  26. Stadler ZK, Salo-Mullen E, Sabbaghian N, et al. Germline PALB2 mutation analysis in breast-pancreas cancer families. J Med Genet. 2011; 48:523–525.
  27. Adank MA, van Mil SE, Gille JJ, et al. PALB2 analysis in BRCA2-like families. Breast Cancer Res Treat. 2011;127:357–362.
  28. Hofstatter EW, Domchek SM, Miron A, et al. PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer. 2011;10:225–231.
  29. Peterlongo P, Catucci I, Pasquini G, et al. PALB2 germline mutations in familial breast cancer cases with personal and family history of pan-creatic cancer. Breast Cancer Res Treat. 2011;126:825–828.
  30. Buisson R, Dion-Cote AM, Coulombe Y, et al. Cooperation of breast cancer proteins PALB2 and piccolo BRCA2 in stimulating homologous recombination. Nat Struct Mol Biol. 2010;17:1247–1254.