№ lp_2_1_23477
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This document is a scientific report providing expert recommendations and evaluations regarding genetic testing for breast cancer, focusing on the development of a multigene panel for clinical use.
Year:
2024
Region / City:
International
Subject:
Breast Cancer, Genetic Testing
Document Type:
Expert Consensus Report
Organization / Institution:
ESMO Precision Oncology Working Group
Author:
ESMO Precision Oncology Working Group
Target Audience:
Clinicians, Medical Oncologists, Geneticists
Period of validity:
2024
Approval Date:
Not specified
Date of Changes:
Not specified
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Year:
2016-2021
Species studied:
Human, Collared flycatcher, Herring, Cattle, Chimpanzee, Mouse, Rhesus macaque, Grey mouse lemur, Cat, Marmoset
Number of trios:
13, 7, 12, 5, 1550, 150, 8, 19, 2, 11, 1
Sequencing machine:
Illumina HiSeq, Illumina HiSeq 2500, Illumina HiSeq X, Illumina HiSeq 2000, Illumina HiSeq 2000, Complete Genomics Inc.
Sequencing depth:
24.7X, 40X, 60X, 65.8X, 23X, 78X, 28.5X, 81X, 34.5X, 41X, 75X
Mapping:
BWA, BWA mem, GATK, Picard MarkDuplicates
Variant calling method:
DeNovoGear, GATK, FreeBayes, Strelka
FDR:
83.1%, 35%, 13%, 5.9%, 3%, 88%, 57.4%, 91.5%, 91%, 44%
FNR:
20%, 80%, 32%, 44%, 45%
Method:
Poisson distribution, Customized filtering, Manual curation
Software:
GATK 3.3.0, GATK 3.5, Samtools
Validation method:
Sanger sequencing, Manual curation, Simulation
Date of approval:
2016-2021
End of study:
2021
Year:
2026
Region / City:
Not specified
Topic:
Immunogenetics, Clonal evolution in leukemia
Document type:
Supplementary materials and methods
Institution:
Research laboratory, unspecified
Author:
Not specified
Target audience:
Researchers in hematology and molecular biology
Period of study:
Patient cohort sampling period not specified
Date of approval:
Not specified
Sequencing depth:
IGH-DJ library average 104,771 reads per KMT2A-rearranged sample, IGH-VJ library average 42,640 reads per KMT2A-rearranged sample
Patient cohort:
KMT2A-rearranged (n=18), KMT2A-germline (n=137)
Clonal evolution assessment:
DNJ-stem analysis with VH-DJH and VH-rep mechanisms
Sample materials:
Bone marrow, peripheral blood, bone marrow trephine
Immunophenotype:
pro-B, c-/pre-B
Age at entry:
18–56 years
White blood cell count:
specified per patient
Gene fusion:
KMT2A-MLLT1, KMT2A-AFF1, KMT2A-UBASH3B
Note:
Gene
Year:
2020
Region / city:
Not specified
Topic:
Genetic variants, Germline mutations
Document type:
Supplementary Table
Author:
Matejcic et al
Target audience:
Researchers in genetics, oncology
Period of validity:
Not specified
Approval date:
Not specified
Modification date:
Not specified
Study ID:
A211801
Study name:
BRCA-P
Document type:
Clinical trial eligibility criteria summary
Study type:
Randomized, double-blind, placebo-controlled clinical trial
Phase:
Phase 3
Geographic scope:
International multi-center study
Medical field:
Oncology
Target condition:
Breast cancer prevention in BRCA1 germline mutation carriers
Investigational drug:
Denosumab
Control:
Placebo
Population:
Women with confirmed deleterious or likely deleterious BRCA1 germline mutation aged 25–55 years
Key inclusion criteria:
No evidence of breast cancer by MRI or mammography and clinical breast examination within 6 months, no clinical evidence of ovarian cancer, ECOG performance status 0–1, written informed consent
Key exclusion criteria:
Prior bilateral mastectomy, history of breast or ovarian cancer, prior denosumab use, pregnancy or lactation, clinically relevant hypocalcaemia, certain prior hormonal or investigational treatments, significant medical or psychiatric conditions, active hepatitis B, hepatitis C, or HIV infection
Year:
2020
Region / City:
Ghent, Belgium
Topic:
Human germline gene editing
Document type:
Review article
Institution:
Ghent University Hospital, Center for Medical Genetics Ghent
Authors:
Bekaert B., Boel A., Cosemans G., De Witte L., Menten B., Heindryckx B.
Corresponding author:
[email protected]
Keywords:
human germline gene editing, loss-of-heterozygosity, mosaicism, CRISPR/Cas9
Focus:
Preimplantation embryos and oocytes
Methodologies:
Knock-out and knock-in experiments, base editing, prime editing
Challenges addressed:
Mosaicism, off-target editing, loss-of-heterozygosity
Ethical considerations:
Use of non-viable embryos, evaluation of ethical implications of HGGE
Publication type:
Peer-reviewed scientific review
Year:
2025
Region / City:
North West NHS GMS region
Topic:
ctDNA testing for NSCLC and breast cancer
Document Type:
Notification
Organization:
NHS England
Author:
Genomics Unit
Target Audience:
NHS Trusts
Period of Action:
2025/26 financial year
Approval Date:
7 November 2025
Date of Changes:
N/A
Context:
Notification regarding the continuation and expansion of ctDNA testing for lung and breast cancer in the North West NHS region for the 2025/26 financial year.
Year:
2024
Region / City:
International
Subject:
Nuclear medicine, breast cancer, estrogen receptor imaging
Document type:
Procedure standard / Practice guideline
Organization:
SNMMI, EANM
Authors:
David Mankoff, Sona Balogova, Lisa Dunnwald, Farrokh Dehdashti, Erik DeVries, Laura Evangelista, Michel Van Krutchen, Sofia Carriho Vaz, Amy Fowler, Hannah Linden, Gary Ulaner
Target audience:
Nuclear medicine practitioners, oncologists
Scope period:
Current clinical practice
Approval date:
2024
Revision cycle:
Every 5 years or sooner if indicated
Description:
Clinical guideline detailing standardized procedures for [18F]FES PET imaging of estrogen receptor expression in breast cancer patients, including methodology, interpretation, and quality assurance for diagnostic nuclear medicine.
Version:
4.4.0.0
Protocol Posting Date:
June 2021
CAP Laboratory Accreditation Program Protocol Required Use Date:
March 2022
Authors:
Patrick L. Fitzgibbons, MD, FCAP; James L. Connolly, MD
Note:
Accreditation Requirements
Year:
2021
Region / City:
Global
Theme:
Oncology, Breast Cancer
Document Type:
Protocol
Organization / Institution:
CAP (College of American Pathologists)
Author:
Patrick L. Fitzgibbons, MD, FCAP; James L. Connolly, MD
Target Audience:
Medical professionals, pathologists
Period of Validity:
From March 2022
Date of Approval:
June 2021
Date of Changes:
June 2021
Year:
2024
Region / City:
Not specified
Subject:
Pathology, Oncology
Document Type:
Protocol
Organization / Institution:
CAP (College of American Pathologists)
Author:
Uma G. Krishnamurti, MD, PhD; Kimberly H. Allison, MD; Patrick L. Fitzgibbons, MD, FCAP; James L. Connolly, MD
Target Audience:
Pathologists, Medical Institutions
Period of Validity:
March 2025
Approval Date:
Not specified
Date of Last Change:
June 2024
Version:
1.2.0.0
Protocol posting date:
March 2023
Document type:
Clinical pathology protocol
Medical field:
Breast pathology, oncology
Procedures covered:
Needle biopsy, fine needle aspiration, other biopsy procedures
Tumor types included:
Invasive breast carcinoma of any type, with or without ductal carcinoma in situ
Tumor types excluded:
Ductal carcinoma in situ without invasion, Paget disease without invasion, phyllodes tumor, lymphoma, sarcoma
Authors:
Patrick L. Fitzgibbons, MD, FCAP; James L. Connolly, MD
Organization:
College of American Pathologists
Accreditation status:
Recommended for clinical care, not required for accreditation
Intended use:
Reporting of biopsy specimens
Updates:
Optional reporting of largest invasive focus; revised lymphatic and/or vascular invasion terminology
Year:
2017
Region / City:
Georgia
Subject:
Cancer prevention, screening, and healthcare services
Document Type:
Evaluation Plan
Organization:
Georgia Department of Public Health
Author:
Janet Y Shin, Kia Powell-Threets
Target Audience:
Health professionals, stakeholders involved in cancer prevention and treatment
Period of validity:
6/30/2017 – 6/29/2022
Approval Date:
1/31/2018
Amendment Date:
5/15/2018
Version:
GMMMG version 1.1
Replaces version:
GMMMG version 1.0
Clinical content last reviewed:
July 2024
Next review date:
July 2026
Date published:
27th February 2025
CRG approval:
12th November 2024
GMMMG approval:
12th December 2024
GM CEGC approval:
17th December 2024
Note:
Background
Year:
2019
Region / city:
West Middlesex, Chelsea & Westminster Hospital
Topic:
Breast Cancer Follow-Up Care
Document Type:
Standard Operating Policy
Organization:
Chelsea & Westminster Hospital NHS Trust
Author:
Dr. Pippa Riddle, Dr. Mark Bower, Mr. Musa Barkeji
Target Audience:
Medical and clinical staff involved in breast cancer follow-up care
Validity Period:
2019 - Ongoing
Review Date:
August 2020
Approval Date:
Not specified
Changes Date:
Not specified
Year:
2015
Region / city:
United Kingdom
Topic:
Menopause, breast cancer, hot flushes, night sweats, management, patient care
Document Type:
Research study
Organization / institution:
University of Southampton, University of Warwick, Mount Vernon Cancer Centre, Breast Cancer Care, Kings College London, Independent Cancer Patient Voice, National Cancer Research Institute (NCRI)
Author:
Fenlon D, Morgan A, Khambaita P, Mistry P, Dunn J, Ah-See M.L., Pennery E, Hunter MS
Target audience:
Health professionals, breast cancer patients
Period of validity:
2015 onwards
Date of approval:
2015
Date of changes:
N/A
Context:
This research study presents findings on the management of hot flushes and night sweats among women with breast cancer in the UK, highlighting current practices and the need for improved treatment guidelines.
Year:
2013
Region / City:
N/A
Topic:
Breast MRI Protocol
Document Type:
Protocol
Institution / Organization:
ACRIN
Author:
Nola Hylton, PhD
Target Audience:
Medical professionals involved in breast MRI
Period of Effectiveness:
N/A
Approval Date:
N/A
Modification Date:
N/A
Year:
2013
Region / city:
Not specified
Topic:
Breast cancer, radiotherapy, surgical procedures
Document type:
Audit report
Organization / institution:
Not specified
Author:
Dr John McGrane
Target audience:
Radiotherapy professionals, surgical teams, oncology departments
Period of validity:
Not specified
Approval date:
28 April 2013
Date of last review:
16 April 2018
Book Name:
Disease and Health: Research Developments
Manuscript Number:
Ms_BPR_4732
Title of the Manuscript:
Racial Disparity in Quadruple Negative Breast Cancer: Aggressive Biology and Potential Therapeutic Targeting and Prevention
Type of Article:
Book Chapter
Source Article:
Cancers, Volume 14 (Issue 18): 1–15, 2022
DOI:
10.3390/cancers14184484
Journal:
Cancers
Year:
2022
Reviewer:
Sadaf Shafi Gadoo
Reviewer Affiliation:
Government Medical College Srinagar
Country:
India
Subject Area:
Oncology; Breast Cancer Research; Racial Health Disparities
Disease Focus:
Quadruple-Negative Breast Cancer (QNBC)
Population Focus:
Black/African-American Women
Peer Review Outcome:
Scientifically correct; language suitable; references not sufficient or recent
Ethical Issues Reported:
None indicated
Year:
2017
Region / city:
Oxford, UK
Topic:
Cancer staging
Document type:
Classification guide
Organization / institution:
UICC
Author:
Brierley JD, Gospodarowicz MK, Wittekind C
Target audience:
Medical professionals, oncologists
Period of validity:
From 1 January 2018
Date of approval:
2017
Date of changes:
N/A
Year:
2020
Region / City:
Guntur
Theme:
Medical Research
Document Type:
Research Article
Institution:
International Journal of Clinical and Diagnostic Pathology
Author:
Dr. Hima Bindu Gurram, Dr. Yarlagadda Krishna Bharathi, Dr. V. Satyanarayana
Target Audience:
Medical professionals, Researchers
Period of validity:
2020
Approval Date:
3/13/2020
Modification Date:
N/A
Year:
2020
Region / City:
Kansas City, MO
Topic:
Breast Cancer Awareness, Mobile Mammography
Document Type:
Event Announcement
Organization / Institution:
Prevent Cancer Foundation, Palestine Missionary Baptist Church, Diagnostic Imaging Centers, P.A., Susan G. Komen
Author:
Not specified
Target Audience:
General public, women
Effective Period:
October 2020
Approval Date:
Not specified
Modification Date:
Not specified