Loss of heterozygosity on chromosome arm 16q in breast cancer: clinical, molecular and statistical approaches

Cleton-Jansen, A.M.; Beerendonk, H van; Haar, N.T. ter; Eilers, Phc; Houwelingen, HC van; Bonsing, B.A.; Smit, V.; Ommen, Gjb van; Cj, Cornelisse

doi:10.1186/bcr114

Cited by 3 publications

(3 citation statements)

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“…While DDR1 mutations in breast cancer are estimated to occur at a rate of 2-4% each, it is worth noting that these figures may be underreported as many genomic studies on breast cancer have not explicitly explored DDR1. It is also worth noting that CBFβ mutations may also be under reported as the loss of the CBFβ’s chromosomal loci at 16q22 represents one of the most frequent and earliest genomic alterations observed in breast cancer, affecting roughly 50% of all cases (Cleton-Jansen et al, 2000; Przybytkowski et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

DDR1 regulates RUNX1-CBFβ to control breast stem cell differentiation

Trepicchio,

Rauner,

Traugh

et al. 2024

Preprint

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The human breast is complex and comprised of multi-lineage and multi-structural elements. Recent work has shown that epithelial stem and progenitor cells use the collagen receptor Discoidin Domain Receptor 1 (DDR1) for differentiation into both basal and luminal cell lineages, which together are necessary for both ductal and alveolar morphogenesis. We developed a next-generation single cell derived organoid model that generates miniaturized breast tissue, to study how single stem cells can give rise to multiple cell types and compound tissue structures. We show that DDR1 activation triggers stem cell differentiation via RUNX1 in turn driving multilineage differentiation as well as complex ductal-lobular development. Mechanistically, DDR1 affects the interaction and expression of RUNX1 and its cofactor CBFβ thereby regulating its activity. Together, these findings contribute to the current understanding of how the extracellular matrix component within the stem cell niche drives organogenesis and tissue regeneration.

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Section: Discussionmentioning

confidence: 99%

DDR1 regulates RUNX1-CBFβ to control breast stem cell differentiation

Trepicchio,

Rauner,

Traugh

et al. 2024

Preprint

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“…According to our results, E-cadherin and P-cadherin were located at 16q22.1, and P-cadherin was located in the upstream of E-cadherin [ 228 ]. Long-arm heterozygous deletion (LOH) of chromosome 16 occurs in at least half of breast tumors, and the smallest region of overlap (SRO) is found in the region of 16q22.1 [ 229 ], suggesting the presence of tumor suppressor genes (TSG) in this region of the BC. E-cadherin fits this profile [ 230 ], while P-cadherin is associated with poor survival [ 231 ].…”

Section: Proteinmentioning

confidence: 99%

Anoikis resistance––protagonists of breast cancer cells survive and metastasize after ECM detachment

Dai

Zhang

et al. 2023

Cell Commun Signal

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Breast cancer exhibits the highest global incidence among all tumor types. Regardless of the type of breast cancer, metastasis is a crucial cause of poor prognosis. Anoikis, a form of apoptosis initiated by cell detachment from the native environment, is an outside-in process commencing with the disruption of cytosolic connectors such as integrin-ECM and cadherin-cell. This disruption subsequently leads to intracellular cytoskeletal and signaling pathway alterations, ultimately activating caspases and initiating programmed cell death. Development of an anoikis-resistant phenotype is a critical initial step in tumor metastasis. Breast cancer employs a series of stromal alterations to suppress anoikis in cancer cells. Comprehensive investigation of anoikis resistance mechanisms can inform strategies for preventing and regressing metastatic breast cancer. The present review first outlines the physiological mechanisms of anoikis, elucidating the alterations in signaling pathways, cytoskeleton, and protein targets that transpire from the outside in upon adhesion loss in normal breast cells. The specific anoikis resistance mechanisms induced by pathological changes in various spatial structures during breast cancer development are also discussed. Additionally, the genetic loci of targets altered in the development of anoikis resistance in breast cancer, are summarized. Finally, the micro-RNAs and targeted drugs reported in the literature concerning anoikis are compiled, with keratocin being the most functionally comprehensive.

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“…Interestingly, different studies revealed partially different, partially overlapping results (Whitmore et al, 1998;Cleton-Jansen et al, 2001;Callen et al, 2002). Part of these discrepant results might be explained by the limited number of cases that could be analysed by classical cytogenetics, and the limited statements about the overall chromosome 16q-status that can be made by LOH analysis as discussed more extensively below.…”

Section: Chromosome 16q Losses In Invasive Breast Cancermentioning

confidence: 99%

Columnar cell lesions of the breast: morphologic features and role of 16q losses

Boer¹

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Columnar cell lesions of the breast are proposed as the earliest recognizable precursor lesions of low grade breast cancer. The lesions are characterized by cystically enlarged terminal duct lobular units with monotonous (monoclonal) columnar type luminal cells. Variants with and without atypia are recognized. In her thesis, Mirthe de Boer discusses the morphological, immunohistochemical and molecular features of columnar cells lesions and other benign and premalignant look-alikes. Morphologically, a new phenomenon of pagetoid “pale cells” is described in columnar cell lesions. These pale cells could potentially serve as a feature of atypia. The role of chromosome 16q losses in breast carcinogenesis is reviewed and the frequency of chromosome 16q losses is studied in columnar cell lesions, columnar cell look-alikes, other members of the low nuclear grade breast neoplasia family and blunt duct adenosis. Based on the lack of chromosome 16q losses, blunt duct adenosis is proposed as a separate entity, falling in the spectrum of the benign lesions. Morphological criteria to discriminate between blunt duct adenosis and columnar cell lesions are presented. Finally, also the overlapping characteristics of columnar cell lesions and intraductal papillomas are discussed and the first papillary atypical columnar cell lesion variants are described. The results of this thesis underline the precursor role of columnar cell lesions and have the potential to improve accuracy and reproducibility of the diagnosis of early precursor breast lesions, which is the basis for researching optimal patient care.

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Loss of heterozygosity on chromosome arm 16q in breast cancer: clinical, molecular and statistical approaches

Cited by 3 publications

References 0 publications

DDR1 regulates RUNX1-CBFβ to control breast stem cell differentiation

DDR1 regulates RUNX1-CBFβ to control breast stem cell differentiation

Anoikis resistance––protagonists of breast cancer cells survive and metastasize after ECM detachment

Columnar cell lesions of the breast: morphologic features and role of 16q losses

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