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Unknown<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.
Integrating genomic medicine into healthcare systems is a health policy challenge that requires continuously transferring scientific advances into clinics and ensuring equal access for patients. France was one of the first countries to integrate genome sequencing into clinical practice at a nationwi...
S-EPMC11910791 | biostudies-literature
UnknownDerived Neutrophil-to-Lymphocyte Ratio Predicts Pathological Complete Response to Neoadjuvant Chemotherapy in Breast Cancer.

Background

Derived neutrophil-to-lymphocyte ratio (dNLR) is a biomarker associated with clinical outcome in breast cancer (BC). We analyzed the association of dNLR with pathological complete response (pCR) in triple-negative BC (TNBC) patients receiving neoadjuvant chemotherapy (CT).

Meth...

S-EPMC8875201 | biostudies-literature
UnknownIdentification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus.

Background

Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk.

Method

We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more...
S-EPMC4962376 | biostudies-literature
UnknownComparing Neoadjuvant Nab-paclitaxel vs Paclitaxel Both Followed by Anthracycline Regimens in Women With ERBB2/HER2-Negative Breast Cancer-The Evaluating Treatment With Neoadjuvant Abraxane (ETNA) Trial: A Randomized Phase 3 Clinical Trial.

Importance

Studies of neoadjuvant chemotherapy regimens using anthracyclines followed by taxanes have reported a doubling of pathological complete remission (pCR) rates compared with anthracycline-based regimens alone. A reverse sequence did not reduce activity. Nab-paclitaxel is an albumin-...
S-EPMC5885830 | biostudies-literature
UnknownThe Immune-Related 27-Gene Signature DetermaIO Predicts Response to Neoadjuvant Atezolizumab plus Chemotherapy in Triple-Negative Breast Cancer.

Purpose

We assessed the 27-gene RT-qPCR-based DetermaIO assay and the same score calculated from RNA sequencing (RNA-seq) data as predictors of sensitivity to immune checkpoint therapy in the neoTRIPaPDL1 randomized trial that compared neoadjuvant carboplatin/nab-paclitaxel chemotherapy (CT)...
S-EPMC11528202 | biostudies-literature
UnknownTumor-specific major histocompatibility-II expression predicts pathological complete response to atezolizumab combined to chemotherapy in triple-negative breast cancer.
Adding immune checkpoint inhibitors to neoadjuvant chemotherapy improves outcomes in early-stage triple-negative breast cancer (TNBC), but a fraction of patients derive benefit. Tumor-specific MHC-II (tsMHC-II) expression has been shown to be a predictive biomarker of pathological complete response ...
S-EPMC12480687 | biostudies-literature
UnknownNo clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Objective

Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with survival time. However, prior studies, emphasizing ...
S-EPMC4630206 | biostudies-literature
UnknownA case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variant...
S-EPMC7890067 | biostudies-literature
UnknownFine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent ris...
S-EPMC6974400 | biostudies-literature
UnknownThe <i>FANCM</i>:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been prop...
S-EPMC6825205 | biostudies-literature
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