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PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina

  • Epidemiology
  • Published:
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Abstract

Purpose

PALB2 variants have been scarcely described in Argentinian and Latin-American reports. In this study, we describe molecular and clinical characteristics of PALB2 mutations found in multi-gene panels (MP) from breast-ovarian cancer (BOC) families in different institutions from Argentina.

Methods

We retrospectively identified PALB2 pathogenic (PV) and likely pathogenic (LPV) variants from a cohort of 1905 MP results, provided by one local lab (Heritas) and SITHER (Hereditary Tumor Information System) public database. All patients met hereditary BOC clinical criteria for testing, according to current guidelines.

Results

The frequency of PALB2 mutations is 2.78% (53/1905). Forty-eight (90.5%) are PV and five (9.5%) are LPV. Most of the 18 different mutations (89%) are nonsense and frameshift types and 2 variants are novel. One high-rate recurrent PV (Y551*) is present in 43% (23/53) of the unrelated index cases. From the 53 affected carriers, 94% have BC diagnosis with 14% of bilateral cases. BC phenotype is mainly invasive ductal (78%) with 62% of hormone-receptor positive and 22% of triple negative tumors. Self-reported ethnic background of the cohort is West European (66%) and native Latin-American (20%) which is representative of Buenos Aires and other big urban areas of the country.

Conclusion

This is the first report describing molecular and clinical characteristics of PALB2 carriers in Argentina. Frequency of PALB2 PV in Argentinian HBOC families is higher than in other reported populations. Y551* is a recurrent mutation that seems to be responsible for almost 50% of PALB2 cases.

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Data availability

All data generated or analyzed during this study are included in SITHER public database (http://www.inc.gob.ar/sither) and in this article with its supplementary information files.

Notes

  1. European descendants born in the Americas [45]

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Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

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Authors and Affiliations

  1. Heritas, Rosario, Argentina

    Ariana Gonzalez, Franco Del Greco & Bianca Brun

  2. IMBECU-CONICET-UNCuyo, Mendoza, Argentina

    Laura Vargas-Roig

  3. CEMA Centro de Mastología Rosario, Rosario, Argentina

    Gonzalo Tabares

  4. Universidad Nacional de Cuyo - COIR, Mendoza, Argentina

    Alejandra Mampel

  5. Instituto Modelo de Ginecología Y Obstetricia, Córdoba, Argentina

    Cecilia Montes & María Soledad Del Castillo

  6. Hospital Privado Universitario de Córdoba, Córdoba, Argentina

    Claudia Martin

  7. CEMAFE, Santa Fe, Argentina

    Marcela Lopez

  8. Fundación Para el Progreso de La Medicina, Córdoba, Argentina

    Norma Rossi

  9. Instituto de Oncología Alexander Fleming, Buenos Aires, Argentina

    Luisina Bruno & Carolina Ponce

  10. Laboratorio Cigen, Rosario, Argentina

    Patricia Quaglio

  11. Instituto San Marcos, San Juan, Argentina

    Alvaro Yanzi

  12. Hospital Británico de Buenos Aires, Buenos Aires, Argentina

    Santiago Acevedo

  13. Clínica San Gerónimo, Santa Fe, Argentina

    Lilia Lugo

  14. Instituto de Ginecología de Rosario, Rosario, Argentina

    Paula Lopez Breccia

  15. Facultad de Ciencias Médicas, Universidad Nacional del Comahue, Neuquén, Argentina

    Silvia Avila

  16. Hospital Privado de Comunidad, Mar del Plata, Argentina

    Silvina Sisterna

  17. Heritas - CONICET, Rosario, Argentina

    Silvia Avila & Martín Vazquez

  18. Hospital Alemán de Buenos Aires, Buenos Aires, Argentina

    Silvia Avila & Lina M. Nuñez

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  1. Ariana Gonzalez
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  2. Franco Del Greco
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Correspondence to Lina M. Nuñez.

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This research study was conducted retrospectively from data obtained for clinical purposes and public databases. Informed consent was obtained from patients for both germline genetic testing and anonymous use of clinical information at the time of the sample collection.

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Gonzalez, A., Del Greco, F., Vargas-Roig, L. et al. PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina. Breast Cancer Res Treat 194, 403–412 (2022). https://doi.org/10.1007/s10549-022-06620-5

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