The Impact of Expanded Access to Germline High Penetrance Genetic Testing for Women With a New Diagnosis of Invasive Breast Cancer or High-Grade DCIS.

doi:10.1016/j.clbc.2026.07.031

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The Impact of Expanded Access to Germline High Penetrance Genetic Testing for Women With a New Diagnosis of Invasive Breast Cancer or High-Grade DCIS.

Clinical breast cancer - 1 Sept 2026

Hudson-Phillips Sarah P, Nanda Akriti, Attia Mohamed, Al Yaqout Wadha, Marshall Evelyn, Rusby Jennifer E, Krupa Katherine, Barry Peter A, Tasoulis Marios Konstantinos, Gui Gerald, Merh Radhika, Torr Bethany, Kemp Zoe, George Angela, Turnbull Clare, O'Connell Rachel L

Abstract excerpt

BACKGROUND: Approximately 3% of patients with breast cancer have an inherited pathogenic variant in high-penetrance genes such as BRCA1, BRCA2 or PALB2. Knowledge of genetic testing result may impact surgery undertaken at the time of index breast cancer treatment. The aim of this study was to evaluate the impact of a positive high penetrance genetic test (HPGT) on surgical decision-making. METHODS: Females >18...

Read the complete abstract on PubMed

Topics

Humans
Female
Breast Neoplasms
Genetic Testing
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Germ-Line Mutation

Adult

Carcinoma, Intraductal, Noninfiltrating

Aged

Fanconi Anemia Complementation Group N Protein

Penetrance

Genetic Predisposition to Disease

BRCA1 Protein

Carcinoma, Ductal, Breast

BRCA2 Protein

Mastectomy

Source

Open in PubMed

Identifiers

PMID: 42659730
DOI: 10.1016/j.clbc.2026.07.031

Genes

BRCA1
BRCA2
PALB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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