LobularCard Trial: Searching for Novel Germline Mutations in Lobular Breast Cancer Patients

NCT05410951 | Active Not Recruiting

• 1 other identifier: IEO 1730
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 1

Brief Summary

This is a cross-sectional and retrospective study of a cohort of patients with invasive lobular breast cancer (LBC) or in situ lobular neoplasia (LIN3). The main endpoint is the relative frequency of patients with a germline mutation using a recent panel including 113 genes from the "Illumina" protocol. In case of identification of a novel pathogenetic germline mutations, a personalized follow-up will be offered to each patient (in case of genes at moderate-, low-penetrance), or prophylactic mastectomy (in case of genes at high-penetrance). Breast screening in moderate-, low-penetrance mutated patients should be performed periodically using digital mammography, ultrasound and MRI, and will be routinely observed. Patients will be scheduled for follow-up at six-month intervals for 5 years at our outpatient clinic, and yearly thereafter

Conditions

Lobular in Situ Breast Carcinoma; BRCA1 Mutation; BRCA2 Mutation; Lobular Breast Carcinoma

Outcome Measures

Primary Outcomes (1)

• Relative frequency of patients with a germline mutation

  Frequency of germline mutation status in patients with in situ (LIN3) or invasive LBC or bilateral LBC or LBC with or without family history for breast cancer

  1 month

Secondary Outcomes (4)

• Correlation of clinic-pathological data between genes at high-penetrance versus other genes

  1 month

• Prevalence of germline mutation status by clinical strata

  1 month

• Association with disease free survival and overall survival

  5 years

• Association of mutation status with molecular subtypes

  3 months

Interventions

Illumina panel DIAGNOSTIC_TEST

Determination of germline mutations using a recent panel including 113 genes from the "Illumina" protocol

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with in situ (LIN3) or invasive LBC or bilateral LBC or LBC with or without family history for BC, with blood sample available in European Institute of Oncology biobank

You may qualify if:

• All LBC observed retrospectively at the European Institute of Oncology, with a proved diagnosis of LBC (biopsy or operated)

You may not qualify if:

• Patients with a previous cancer (except skin basal cell carcinoma)
• Patients with ductal or mixed BC

Sponsors & Collaborators

• European Institute of Oncology: lead

Study Sites (1)

European Institute of Oncology

Milan, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

The screening analysis will be performed on blood samples available in European Institute of Oncology Biobank by Next Generation Sequencing (NGS) technology using the TruSight Hereditary Cancer panel (Illumina) to analyze the entire coding regions of 113 genes selected genes and 125 SNPs, starting from 50 ng of gDNA extracted with MagCore HF16 Plus (Diatech Labline). Libraries will be constructed following the manufacturer protocols (Nextera Flex for Enrichment Illumina) and will be sequenced with Illumina MiSeq Sequencer or Illumina NextSeq Sequencer available in the laboratory. Data will be analyzed with a dedicated software. Finally, all mutations will be confirmed using the Sanger sequencing method (3500xL Dx Genetic Analyzer, Thermo Fisher Scientific).

MeSH Terms

Conditions

Carcinoma, Lobular; Breast Carcinoma In Situ

Condition Hierarchy (Ancestors)

Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Ductal, Lobular, and Medullary; Breast Neoplasms; Neoplasms by Site; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Carcinoma in Situ

Study Officials

• Giovanni Corso, PhD, MD

  European Institute of Oncology

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 6, 2022
• First Posted: June 8, 2022
• Study Start: May 16, 2022
• Primary Completion: December 31, 2025
• Study Completion (Estimated): May 16, 2026
• Last Updated: December 4, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)