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PALB2 germline mutations in a multi-gene panel testing cohort of 1905 breast-ovarian cancer patients in Argentina
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. Meth...
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Published in: | Breast cancer research and treatment 2022-07, Vol.194 (2), p.403-412 |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | 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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ISSN: | 0167-6806 1573-7217 |
DOI: | 10.1007/s10549-022-06620-5 |