Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.


Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
08 2023
Historique:
received: 28 06 2022
accepted: 14 11 2022
medline: 24 7 2023
pubmed: 29 11 2022
entrez: 28 11 2022
Statut: ppublish

Résumé

To investigate frequency of germline pathogenic variants (PVs) in women with ductal carcinoma in situ (DCIS) and grade 1 invasive breast cancer (G1BC). We undertook 30/311 (9.6%) with DCIS and 16/392 with G1BC (4.1%) had a DCIS is more likely to be associated with both

Identifiants

pubmed: 36442995
pii: jmg-2022-108790
doi: 10.1136/jmg-2022-108790
doi:

Substances chimiques

BRCA1 Protein 0
BRCA2 Protein 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

740-746

Subventions

Organisme : Department of Health
ID : IS-BRC-1215-20007
Pays : United Kingdom

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

D Gareth Evans (DG)

Division of Evolution and Genomic Science, The University of Manchester School of Health Sciences, Manchester, UK gareth.evans@mft.nhs.uk.

Siva Sithambaram (S)

Manchester Univerities Hospital NHS Foundation Trust, Manchester, UK.

Elke Maria van Veen (EM)

Division of Evolution and Genomic Sciences, The University of Manchester, Manchester, UK.

George J Burghel (GJ)

Genomic Diagnostic Laboratory, MFT, Manchester, UK.

Helene Schlecht (H)

North West Genomic Laboratory Hub, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

Elaine F Harkness (EF)

Division of Evolution and Genomic Sciences, The University of Manchester, Manchester, UK.

Helen Byers (H)

Genomic Medicine, The University of Manchester School of Health Sciences, Manchester, UK.

Jamie M Ellingford (JM)

Institute of Human Development, The University of Manchester School of Health Sciences, Manchester, UK.

Ashu Gandhi (A)

Prevent Breast Cancer Centre, Wythenshawe Hospital Manchester Universities Foundation Trust, Manchester, UK.

Sacha J Howell (SJ)

Manchester Univerities Hospital NHS Foundation Trust, Manchester, UK.
Department of Medical Oncology, The Christie NHS Foundation Trust, Manchester, UK.

Anthony Howell (A)

Manchester Foundation Trust, Prevent Breast Cancer Centre, Manchester, UK.

Claire Forde (C)

Clinical Genetics Service, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

Fiona Lalloo (F)

Clinical Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

William G Newman (WG)

Genetics, The University of Manchester School of Health Sciences, Manchester, UK.

Miriam Jane Smith (MJ)

Genetic Medicine, The University of Manchester School of Health Sciences, Manchester, UK.

Emma Roisin Woodward (ER)

Manchester Centre for Genomic Medicine, MFT, Manchester, UK.

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Classifications MeSH