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This study aimed to assess the spectrum and characteristics of germline <jats:italic>PALB2<\/jats:italic> pathogenic variants in this population.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Peripheral blood samples were collected from 1556 patients diagnosed with <jats:italic>BRCA1\/2<\/jats:italic>-negative early-onset breast cancer<jats:italic>.<\/jats:italic> All coding regions and exon\u2012intron boundaries of the <jats:italic>PALB2<\/jats:italic> genes were screened through next-generation sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The prevalence of <jats:italic>PALB2<\/jats:italic> pathogenic variants was approximately 0.77% in the cohort. Eleven <jats:italic>PALB2<\/jats:italic> pathogenic variants were identified in twelve participants, including five frameshift mutations and six nonsense mutations. All other variants were detected once, except for <jats:italic>PALB2<\/jats:italic> c.1056_1057del (detected twice). Two <jats:italic>PALB2<\/jats:italic> carriers (2\/12, 16.7%) have documented family history of breast cancer and\/or ovarian cancer. Patients with a positive family history exhibited a threefold higher possibility of being identified as <jats:italic>PALB2<\/jats:italic> carriers than those without a family history (2% vs. 0.69%), although the difference was not statistically significant (<jats:italic>p<\/jats:italic>\u2009=\u20090.178). Compared to non-carriers, <jats:italic>PALB2<\/jats:italic> carriers has a tendency to appear in younger age (\u2264\u200930\u00a0years) (25% vs 14.4%), human epidermal growth factor receptor-2 (HER2)-negative status (83.3% vs. 70.2%), and diagnosed with invasive micropapillary carcinoma (16.7% vs 3.1%).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The prevalence of the germline <jats:italic>PALB2<\/jats:italic> pathogenic variants was approximately 0.77% in Chinese patients with <jats:italic>BRCA1\/2<\/jats:italic>-negative early-onset breast cancer. Our findings is crucial for understanding population-specific genetic risks and offering insights that can enhance genetic counseling and genetic testing strategies in this population.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00432-024-05758-7","type":"journal-article","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T02:01:26Z","timestamp":1719280886000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China"],"prefix":"10.1007","volume":"150","author":[{"given":"Jing","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qindong","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yali","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weifeng","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yibin","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunyi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhui","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minyan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuxiang","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fangmeng","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"5758_CR1","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1056\/NEJMoa1400382","volume":"371","author":"AC Antoniou","year":"2014","unstructured":"Antoniou AC, Casadei S, Heikkinen T et al (2014) Breast-cancer risk in families with mutations in PALB2. 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