Effect on Germline Mutation Rate in a High-Risk Chinese Breast Cancer Cohort after Compliance with The National Comprehensive Cancer Network (NCCN) 2023 v.1 Testing Criteria DOI Open Access
Ava Kwong,

Cecilia Y.S. Ho,

Wing-Pan Luk

и другие.

Cancers, Год журнала: 2023, Номер 15(9), С. 2635 - 2635

Опубликована: Май 6, 2023

The National Comprehensive Cancer Network (NCCN) testing criteria for the high-penetrance breast cancer susceptibility genes, specifically BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53, have been recently modified in 2023 to v.1. following changed: (1) from a person diagnosed with at ≤45 ≤50; (2) aged 45-50 of personal diagnosis any age multiple cancers; (3) ≥51 family history listed NCCN 2022 v.2.High-risk patients (n = 3797) were recruited Hong Kong Hereditary Breast Family Registry between 2007 2022. Patients grouped according v.1 v.2. A 30-gene panel hereditary was performed. mutation rates on genes compared.About 91.2% met v.2 criteria, while 97.5% criteria. An extra 6.4% included after revision 2.5% did not meet both germline BRCA1/2 meeting 10.1% 9.6%, respectively. all 6 these two groups 12.2% 11.6%, Among additional 242 who using new selection 2.1% those cancers, strong cancers NCCN, unclear pathology information, or patient's voluntary intention be tested. 5.3% 6.4%, respectively.This study provided real-world application guidelines its effect rate Chinese population. Applying updated further genetic investigation would increase positive detection rate, potentially more benefit. balance resource outcome requires careful consideration.

Язык: Английский

Glyphosate-based herbicide as a potential risk factor for breast cancer DOI
Lyvia Neves Rebello Alves,

Luiza Poppe Merigueti,

Matheus Correia Casotti

и другие.

Food and Chemical Toxicology, Год журнала: 2025, Номер unknown, С. 115404 - 115404

Опубликована: Март 1, 2025

Язык: Английский

Процитировано

0
Germline rare variants in HER2-positive breast cancer predisposition: a systematic review and meta-analysis DOI Creative Commons
Angélica Cerveira de Baumont, Nathan Araujo Cadore, Luana Giongo Pedrotti

и другие.

Frontiers in Oncology, Год журнала: 2024, Номер 14

Опубликована: Июнь 24, 2024

Introduction Approximately 10% of breast cancer (BC) cases result from hereditary causes. Genetic testing has been widely implemented in BC care to determine syndromes and personalized medicine. Thus, identification individuals carrying germline pathogenic variants could be useful provide appropriate prophylactic or screening measures for each subtype, however, there are few formal recommendations genetic this sense so far. In study, we assessed rare a specific group genes order the association with human epidermal growth factor 2 enriched (HER2+) phenotype through systematic review meta-analysis comparing subtypes overexpressing HER2 other clinically recognized BC. This was registered PROSPERO (ID: CRD42023447571). Methods We conducted an online literature search PubMed (MEDLINE), Scopus, EMBASE databases. included original studies that investigated HER2+ patients selected reported only and/or variants. risk bias quality using Joanna Briggs Institute Critical Appraisal checklists Modified Newcastle-Ottawa Scale Studies, respectively. Considering hormone receptor expression status, compared gene-based risks initially HR-HER2-, HR+HER2-, HR+HER2+, HR-HER2+ groups, conducting separate meta-analyses random effects model comparison, within them gene. Results Of total 36 describing variants, 11 provided information on prevalence different relevant allowed comparisons. Germline eight showed significant differences when meta-analyzed between groups: BRCA1 , BRCA2 TP53 ATM CHEK2 PALB2 RAD51C BARD1 . Notably, were identified as predisposing factors subtypes, whereas associated predisposition low expression. Main concerns about assessment lack confounding control; comparability outcome assessment, Discussion Our findings underscore connection differential protein subtypes. Systematic registration https://www.crd.york.ac.uk/PROSPERO identifier CRD42023447571.

Язык: Английский

Процитировано

3
Rs867228 in FPR1 accelerates the manifestation of luminal B breast cancer DOI Creative Commons
Vincent Carbonnier, Julie Le Naour,

Thomas Bachelot

и другие.

OncoImmunology, Год журнала: 2023, Номер 12(1)

Опубликована: Март 21, 2023

Formyl peptide receptor-1 (FPR1) is a pathogen recognition receptor involved in the detection of bacteria, control inflammation, as well cancer immunosurveillance. A single nucleotide polymorphism FPR1, rs867228, provokes loss-of-function phenotype. In bioinformatic study performed on The Cancer Genome Atlas (TCGA), we observed that homo-or heterozygosity for rs867228 FPR1 (which affects approximately one-third population across continents) accelerates age at diagnosis specific carcinomas including luminal B breast by 4.9 years. To validate this finding, genotyped 215 patients with metastatic mammary from SNPs Risk Metastasis (SToRM) cohort. first occurred an 49.2 years individuals bearing dysfunctional TT or TG alleles (n = 73) and 55.5 functional GG 141), meaning accelerated 6.3 (p=0.0077, Mann & Whitney). These results confirm our original observation independent validation We speculate it may be useful to include screening campaigns selectively increasing frequency stringency examinations starting relatively young age.

Язык: Английский

Процитировано

7
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand DOI Creative Commons
Chalermkiat Kansuttiviwat, Pongtawat Lertwilaiwittaya,

Ekkapong Roothumnong

и другие.

npj Genomic Medicine, Год журнала: 2024, Номер 9(1)

Опубликована: Фев. 14, 2024

Abstract Multi-gene panel testing has led to the detection of pathogenic/likely pathogenic (P/LP) variants in many cancer susceptibility genes patients with breast-ovarian spectrum. However, clinical and genomic data Asian populations, including Thai patients, was underrepresented, significance multi-gene Thailand remains undetermined. In this study, we collected genetic from 4567 hereditary (HBOC) spectrum who underwent testing. Six hundred ten individuals (13.4%) had germline P/LP variants. Detection rates breast, ovarian, pancreatic, prostate were 11.8%, 19.8%, 14.0%, 7.1%, respectively. Non- BRCA gene mutations accounted for 35% ATM most common non- mutation. Four thirty-two breast (80.4%) met current NCCN criteria. The indication early-onset cancer. Ten harbored double cohort. Our result showed that a significant proportion identified HBOC-related cancers. These findings support benefit inherited among HBOC patients. Some modifications policy may be appropriate implementation diverse populations.

Язык: Английский

Процитировано

2
Hereditary Breast Cancer DOI
Miral Patel, Beatriz E. Adrada

Radiologic Clinics of North America, Год журнала: 2024, Номер 62(4), С. 627 - 642

Опубликована: Март 7, 2024

Язык: Английский

Процитировано

2
Prevention, diagnosis and clinical management of hereditary breast cancer beyond BRCA1/2 genes DOI Creative Commons
Alessandra Calabrese, Claudia von Arx,

A.A. Tafuti

и другие.

Cancer Treatment Reviews, Год журнала: 2024, Номер 129, С. 102785 - 102785

Опубликована: Июнь 11, 2024

The detection of germline pathogenic variants (gPVs) in BRCA1/2 and other breast cancer (BC) genes is rising exponentially thanks to the advent multi-gene panel testing. This promising technology, coupled with availability specific therapies for BC BRCA-related, has increased number patients eligible genetic Implementing testing hereditary screening holds promise maximise benefits at risk BC. These range from prevention programs antineoplastic-targeted therapies. However, clinical management these complex requires guidelines based on recent evidence. Furthermore, applying into practice increases uncertain significance (VUSs). augments complexity patients' management, becoming an unmet need medical oncologists. review aims collect updated evidence most common BC-related besides BRCA1/2, their biological role development potential impact tailoring treatment strategies.

Язык: Английский

Процитировано

2
Demographics and Clinical Decision Making in Patients with Germline Moderate Penetrance Non-BRCA Mutations in Breast Cancer Related Genes DOI
Koumani W Ntowe, Samantha M. Thomas,

Juliet C Dalton

и другие.

Annals of Surgical Oncology, Год журнала: 2024, Номер 31(11), С. 7290 - 7300

Опубликована: Июль 8, 2024

Язык: Английский

Процитировано

2
Understanding the mechanistic pathways and clinical aspects associated with protein and gene based biomarkers in breast cancer DOI
Tapan Behl, Ankush Kumar,

Vishakha Vishakha

и другие.

International Journal of Biological Macromolecules, Год журнала: 2023, Номер 253, С. 126595 - 126595

Опубликована: Авг. 28, 2023

Язык: Английский

Процитировано

6
Surgical options for patients with early-stage breast cancer and pathogenic germline variants: an oncologist perspectives DOI Creative Commons
Hikmat Abdel‐Razeq

Frontiers in Oncology, Год журнала: 2023, Номер 13

Опубликована: Сен. 14, 2023

Breast cancer continues to be the most common diagnosed among women worldwide. Family history of breast is frequently encountered, and 5-15% patients may carry inherited pathogenic germline variants, identification which can helpful for both; themselves their unaffected close relatives. The availability affordability molecular diagnostics, like next generation sequencing (NGS), had resulted in wider adoption such technologies detect variants cancer-predisposing genes. International guidelines recently broadened indications genetic testing include much more patients, also expanded multi-gene panels, while some professional societies are calling universal all newly with cancer, regardless age, personal or family history. risk experiencing a contralateral (CBC) ipsilateral recurrence, well known. Such highest BRCA1 BRCA2, but less well-studied other variants. optimal local therapy BRCA-associated remains controversial, tends aggressive involve bilateral mastectomies, not have any survival advantage. Additionally, surgical management women, known gene, vary from surveillance too. oncological safety, higher satisfaction new techniques, skin-sparing (SSM) nipple-sparing (NSM) eased up process counselling. In this review, we address safety options carriers.

Язык: Английский

Процитировано

5
CHEK2is not a Li-Fraumeni syndrome gene: time to update public resources DOI
Cristina Fortuño, Marcy E. Richardson, Tina Pesaran

и другие.

Journal of Medical Genetics, Год журнала: 2023, Номер 60(12), С. 1215 - 1217

Опубликована: Авг. 3, 2023

The gene-disease relationship for CHEK2 remains listed as ‘Li-Fraumeni syndrome 2’ in public resources such OMIM and MONDO, despite published evidence to the contrary, causing frustration among Li-Fraumeni (LFS) clinical experts. Here, we compared personal cancer characteristics of 2095 248 TP53 pathogenic variant carriers undergoing multigene panel testing at Ambry Genetics against 15 135 individuals with no known variant. Our results from a within-cohort logistic regression approach highlight obvious differences between presentation carriers, being associated any -related core LFS cancers. These findings emphasise need replace -associated disease name, thereby limiting potential confusion.

Язык: Английский

Процитировано

4