Discover Community Create You

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

Article

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

19 Mar 2019

Abstract excerpt

Background PALB2 monoallelic loss-of-function germ-line variants confer a breast cancer risk comparable to the average BRCA2 pathogenic variant. Recommendations for risk reduction strategies in carriers are similar. Elaborating robust criteria to identify loss-of-function variants in PALB2—without incurring overprediction—is thus of paramount clinical relevance. Towards this aim, we have performed a comprehensive...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to BRCA gene mutations in cancer
Share to Cancer Genomics and Diagnostics
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30890586
DOI: 10.1136/jmedgenet-2018-105834

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA reportPMID 30890586Read ↗

Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variantsSemantic proximity Read ↗

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants.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 ↗

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 ↗

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

Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore.Semantic proximity Read ↗

Germline mutations in PALB2 in African-American breast cancer casesSemantic proximity Read ↗

PALB2: research reaching to clinical outcomes for women with breast cancerSemantic proximity Read ↗

Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.Semantic proximity Read ↗

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

PALB2 Variants: Protein Domains and Cancer Susceptibility.Semantic 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.