Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.

International journal of molecular sciences - 12 Jul 2023

Chian Jia Sheng, Li Jiaheng, Wang San Ming

Abstract excerpt

PALB2 (Partner and localizer of BRCA2) is crucial for repairing DNA double-stranded breaks (DSBs) through homologous recombination (HR). Germline pathogenic variation in PALB2 disrupts DNA damage repair and increases the risk of Fanconi Anemia, breast cancer, and ovarian cancer. Determination of the evolutionary origin of human PALB2 variants will promote a deeper understanding of the biological basis of PALB2...

Topics

Animals
Female
Humans
BRCA2 Protein
Breast Neoplasms
DNA Repair
Fanconi Anemia Complementation Group N Protein
Genetic Predisposition to Disease
Germ Cells
Germ-Line Mutation
Ovarian Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fanconi Anemia

Evolution, Molecular

Source

Open in PubMed Open full text

Identifiers

PMID: 37511102
DOI: 10.3390/ijms241411343
PMCID: PMC10379391

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evolutionary Origin of Human PALB2 Germline Pathogenic Variants.PMID 37511102Read ↗

Human BRCA pathogenic variants were originated during recent human history.Semantic proximity Read ↗

Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.Semantic proximity Read ↗

Pathogenic variants in human DNA damage repair genes mostly arose in recent human historySemantic proximity Read ↗

Two recurrent pathogenic/likely pathogenic variants in PALB2 account for almost half of PALB2 positive families in SloveniaSemantic proximity Read ↗

Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.Semantic proximity Read ↗

Two PALB2 germline mutations found in both BRCA1+ and BRCAx familial breast cancer.Semantic proximity Read ↗

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.Semantic proximity Read ↗

Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort.Semantic proximity Read ↗

Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.Semantic proximity Read ↗

Genomic ascertainment of <i>PALB2</i> -related cancer predispositionSemantic proximity Read ↗

Germline mutations of PALB2 gene in a sequential series of Chinese patients with breast cancer.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.