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

Breast cancer research and treatment - 1 Jul 2022

Gonzalez Ariana, Del Greco Franco, Vargas-Roig Laura, Brun Bianca, Tabares Gonzalo, Mampel Alejandra, Montes Cecilia, Martin Claudia, Lopez Marcela, Rossi Norma, Bruno Luisina, Ponce Carolina, Quaglio Patricia, Yanzi Alvaro, Acevedo Santiago, Lugo Lilia, Lopez Breccia Paula, Avila Silvia, Sisterna Silvina, Del Castillo María Soledad, Vazquez Martín, Nuñez Lina M

Abstract excerpt

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...

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PMID: 35610400
DOI: 10.1007/s10549-022-06620-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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