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7 Results Found

  • Article
  • Open Access
4 Citations
2,954 Views
13 Pages

The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility

  • Jihenne Ben Aissa-Haj,
  • Hugo Pinheiro,
  • François Cornelis,
  • Molka Sebai,
  • Didier Meseure,
  • Adrien Briaux,
  • Philippe Berteaux,
  • Cedric Lefol,
  • Gaëtan Des Guetz and
  • Etienne Rouleau
  • + 9 authors

25 November 2022

E-cadherin, a CDH1 gene product, is a calcium-dependent cell–cell adhesion molecule playing a critical role in the establishment of epithelial architecture, maintenance of cell polarity, and differentiation. Germline pathogenic variants in the...

  • Feature Paper
  • Article
  • Open Access
3 Citations
4,171 Views
17 Pages

CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma

  • Jihenne Ben Aissa-Haj,
  • Maria Kabbage,
  • Houcemeddine Othmen,
  • Patrick Saulnier,
  • Haifa Tounsi Kettiti,
  • Amira Jaballah-Gabteni,
  • Azer Ferah,
  • Mouna Medhioub,
  • Amal Khsiba and
  • Etienne Rouleau
  • + 7 authors

23 February 2022

Mutational screening of the CDH1 gene is a standard treatment for patients who fulfill Hereditary Diffuse Gastric Cancer (HDGC) testing criteria. In this framework, the classification of variants found in this gene is a crucial step for the clinical...

  • Case Report
  • Open Access
3,442 Views
12 Pages

Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies

  • Gregorio Serra,
  • Rosaria Nardello,
  • Vincenzo Antona,
  • Maria Rita Di Pace,
  • Alessandra Giliberti,
  • Mario Giuffrè,
  • Daniela Mariarosa Morreale,
  • Ettore Piro,
  • Ingrid Anne Mandy Schierz and
  • Giovanni Corsello
  • + 3 authors

7 March 2025

Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomoto...

  • Review
  • Open Access
97 Citations
16,553 Views
136 Pages

Prostate cancer is the most frequent nonskin cancer and second most common cause of cancer-related deaths in man. Prostate cancer is a clinically heterogeneous disease with many patients exhibiting an aggressive disease with progression, metastasis,...

  • Article
  • Open Access
28 Citations
4,099 Views
21 Pages

Deciphering the Genomic Landscape and Pharmacological Profile of Uncommon Entities of Adult Rhabdomyosarcomas

  • Alessandro De Vita,
  • Silvia Vanni,
  • Valentina Fausti,
  • Claudia Cocchi,
  • Federica Recine,
  • Giacomo Miserocchi,
  • Chiara Liverani,
  • Chiara Spadazzi,
  • Massimo Bassi and
  • Laura Mercatali
  • + 16 authors

26 October 2021

Adult rhabdomyosarcoma (RMS) represents an uncommon entity with an incidence of less than 3% of all soft tissue sarcomas (STS). Consequently, the natural history and the clinical management of this disease are infrequently reported. In order to fill...

  • Article
  • Open Access
20 Citations
5,390 Views
14 Pages

The Genomic Landscape of Lobular Breast Cancer

  • Amy E. McCart Reed,
  • Samuel Foong,
  • Jamie R. Kutasovic,
  • Katia Nones,
  • Nicola Waddell,
  • Sunil R. Lakhani and
  • Peter T. Simpson

18 April 2021

Invasive lobular carcinoma (ILC) is the second most common breast cancer histologic subtype, accounting for approximately 15% of all breast cancers. It is only recently that its unique biology has been assessed in high resolution. Here, we present a...

  • Article
  • Open Access
87 Citations
9,534 Views
25 Pages

Real Microgravity Influences the Cytoskeleton and Focal Adhesions in Human Breast Cancer Cells

  • Mohamed Zakaria Nassef,
  • Sascha Kopp,
  • Markus Wehland,
  • Daniela Melnik,
  • Jayashree Sahana,
  • Marcus Krüger,
  • Thomas J. Corydon,
  • Hergen Oltmann,
  • Burkhard Schmitz and
  • Daniela Grimm
  • + 3 authors

With the increasing number of spaceflights, it is crucial to understand the changes occurring in human cells exposed to real microgravity (r-µg) conditions. We tested the effect of r-µg on MCF-7 breast cancer cells with the objective to i...