Genetically transitional disease: a new concept in genomic medicine

Q Yao, P Gorevic, B Shen, G Gibson - Trends in Genetics, 2023 - cell.com
Traditional classification of genetic diseases as monogenic and polygenic has lagged far
behind scientific progress. In this opinion article, we propose and define a new terminology …

Harnessing epigenetics for breast cancer therapy: The role of DNA methylation, histone modifications, and MicroRNA

J Szczepanek, M Skorupa, J Jarkiewicz-Tretyn… - International Journal of …, 2023 - mdpi.com
Breast cancer exhibits various epigenetic abnormalities that regulate gene expression and
contribute to tumor characteristics. Epigenetic alterations play a significant role in cancer …

Understanding the mechanistic pathways and clinical aspects associated with protein and gene based biomarkers in breast cancer

T Behl, A Kumar, A Sehgal, S Singh, N Sharma… - International Journal of …, 2023 - Elsevier
Cancer is one of the most widespread and severe diseases with a huge mortality rate. In
recent years, the second-leading mortality rate of any cancer globally has been breast …

[HTML][HTML] Theranostic biomarkers and PARP-inhibitors effectiveness in patients with non-BRCA associated homologous recombination deficient tumors: Still looking …

L Incorvaia, A Perez, C Marchetti, C Brando… - Cancer Treatment …, 2023 - Elsevier
Breast cancer susceptibility gene 1 (BRCA1) and breast cancer susceptibility gene 2
(BRCA2) deleterious variants were the first and, still today, the main biomarkers of poly …

Rs867228 in FPR1 accelerates the manifestation of luminal B breast cancer

V Carbonnier, J Le Naour, T Bachelot… - …, 2023 - Taylor & Francis
ABSTRACT Formyl peptide receptor-1 (FPR1) is a pathogen recognition receptor involved in
the detection of bacteria, in the control of inflammation, as well as in cancer …

Individualizing Breast Cancer Risk Assessment in Clinical Practice

AE Cyr, K Kennard - Surgical Oncology Clinics, 2023 - surgonc.theclinics.com
Breast cancer (BC) is the most common malignancy in American women.*, 1 Mortality has
declined, in part because screening detects cancers at an early stage. 2 For most women …

Surgical options for patients with early-stage breast cancer and pathogenic germline variants: an oncologist perspectives

H Abdel-Razeq - Frontiers in Oncology, 2023 - frontiersin.org
Breast cancer continues to be the most common cancer diagnosed among women
worldwide. Family history of breast cancer is frequently encountered, and 5-15% of patients …

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

I Bottillo, E Savino, S Majore, C Mulargia… - European Journal of …, 2023 - nature.com
Constitutional heterozygous mutations in CHEK2 gene have been associated with
hereditary cancer risk. To date, only a few homozygous CHEK2 mutations have been …

Prevention, diagnosis and clinical management of hereditary breast cancer beyond BRCA1/2 genes

A Calabrese, C von Arx, AA Tafuti, M Pensabene… - Cancer Treatment …, 2024 - Elsevier
The detection of germline pathogenic variants (gPVs) in BRCA1/2 and other breast cancer
(BC) genes is rising exponentially thanks to the advent of multi-gene panel testing. This …

High-Grade Serous Ovarian Cancer—A Risk Factor Puzzle and Screening Fugitive

J Wilczyński, E Paradowska, M Wilczyński - Biomedicines, 2024 - mdpi.com
High-grade serous ovarian cancer (HGSOC) is the most lethal tumor of the female genital
tract. Despite extensive studies and the identification of some precursor lesions like serous …