ArticleBritish journal of cancer2013
Tumour morphology predicts PALB2 germline mutation status.
Article in British journal of cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Meta-Analysis of Association between PALB2 Polymorphisms and Breast CancerAsian Pacific journal of cancer prevention : APJCP · 2018Pooled it
- Hereditary breast cancer: syndromes, tumour pathology and molecular testing.Histopathology · 2023Review
- Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years.Breast cancer research : BCR · 2019Article
- Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era.Genetics and molecular biology · 2019Article
- Association of PALB2 sequence variants with the risk of early-onset breast cancer in patients from Turkey.Molecular biology reports · 2016Article
- Development of a novel PTT assay for mutation detection in PALB2 large exons and PALB2 screening in medullary breast cancer.Familial cancer · 2016Article
- PALB2: research reaching to clinical outcomes for women with breast cancer.Hereditary cancer in clinical practice · 2016Review
- DNA repair genes implicated in triple negative familial non-BRCA1/2 breast cancer predisposition.American journal of cancer research · 2015Article
- Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.Breast cancer research and treatment · 2015Article
- 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.Nature communications · 2014Article
- Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.Hereditary cancer in clinical practice · 2014Article
Corrections and comments
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Authors and funding
28 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundPopulation-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high breast cancer risk. For women carrying PALB2 mutations, knowing their carrier status could be useful in directing them towards effective cancer risk management and therapeutic strategies. We sought to determine whether morphological features of breast tumours can predict PALB2 germline mutation status.
methodsSystematic pathology review was conducted on breast tumours from 28 female carriers of PALB2 mutations (non-carriers of other known high-risk mutations, recruited through various resources with varying ascertainment) and on breast tumours from a population-based sample of 828 Australian women diagnosed before the age of 60 years (which included 40 BRCA1 and 18 BRCA2 mutation carriers). Tumour morphological features of the 28 PALB2 mutation carriers were compared with those of 770 women without high-risk mutations.
resultsTumours arising in PALB2 mutation carriers were associated with minimal sclerosis (odds ratio (OR)=19.7; 95% confidence interval (CI)=6.0-64.6; P=5 × 10(-7)). Minimal sclerosis was also a feature that distinguished PALB2 mutation carriers from BRCA1 (P=0.05) and BRCA2 (P=0.04) mutation carriers.
conclusionThis study identified minimal sclerosis to be a predictor of germline PALB2 mutation status. Morphological review can therefore facilitate the identification of women most likely to carry mutations in PALB2.
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