scholarly journals Bilateral lobular breast cancer with metastasis

2022 ◽  
Author(s):  
Morouj Shaggah
Keyword(s):  
Breast Cancer ◽  
Lobular Breast Cancer

scholarly journals Clinical spectrum and pleiotropic nature of CDH1 germline mutations

2019 ◽  
Vol 56 (4) ◽  
pp. 199-208 ◽  
Author(s):  
Joana Figueiredo ◽  
Soraia Melo ◽  
Patrícia Carneiro ◽  
Ana Margarida Moreira ◽  
Maria Sofia Fernandes ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gastric Cancer ◽  
Genetic Alterations ◽  
Tumour Suppressor Gene ◽  
Diffuse Gastric Cancer ◽  
Loss Of Function ◽  
Lobular Breast Cancer ◽  
Cancer Syndrome ◽  
Risk Of Cancer ◽  
E Cadherin

CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established that CDH1 genetic alterations cause diffuse gastric cancer and lobular breast cancer—the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that CDH1 mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype–phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis of CDH1-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin’s pleiotropic effects. Ultimately, this knowledge will impact genetic counselling and will be relevant to the assessment of risk of cancer development or congenital malformations in CDH1 mutation carriers.

scholarly journals Extended gene panel testing in lobular breast cancer

2021 ◽  
Author(s):  
Elke M. van Veen ◽  
D. Gareth Evans ◽  
Elaine F. Harkness ◽  
Helen J. Byers ◽  
Jamie M. Ellingford ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Detection Rate ◽  
Gene Panel ◽  
Lobular Breast Cancer ◽  
Germline Variants ◽  
Panel Testing ◽  
Pathogenic Variants ◽  
Gene Panel Testing ◽  
Increased Risk

AbstractPurpose: Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods: 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, PALB2, PTEN, RAD50, RAD51D, and TP53.Results: 35 PGVs were identified in the group with LBC, of which 22 were in BRCA1/2. Ten actionable PGVs were identified in additional genes (ATM(4), CDH1(1), CHEK2(1), PALB2(2) and TP53(2)). Overall, PGVs in three genes conferred a significant increased risk for LBC. Odds ratios (ORs) were: BRCA1: OR = 13.17 (95%CI 2.83–66.38; P = 0.0017), BRCA2: OR = 10.33 (95%CI 4.58–23.95; P < 0.0001); and ATM: OR = 8.01 (95%CI 2.52–29.92; P = 0.0053). We did not detect an increased risk of LBC for PALB2, CDH1 or CHEK2. Conclusion: The overall PGV detection rate was 11.59%, with similar rates of BRCA1/2 (7.28%) PGVs as for other actionable PGVs (7.46%), indicating a benefit for extended panel genetic testing in LBC. We also report a previously unrecognised association of pathogenic variants in ATM with LBC.

The Breast in the End: Metastatic Lobular Breast Cancer Found in the Rectum

2018 ◽  
Vol 113 (Supplement) ◽  
pp. S888
Author(s):  
Mohammed Nayeem ◽  
My-Tang Dang ◽  
Husain Saleh ◽  
Ahmad Abu-Rashed
Keyword(s):  
Breast Cancer ◽  
Lobular Breast Cancer

scholarly journals Genomics and premalignant breast lesions: clues to the development and progression of lobular breast cancer

2007 ◽  
Vol 9 (6) ◽  
Author(s):  
Teresa L Mastracci ◽  
Fouad I Boulos ◽  
Irene L Andrulis ◽  
Wan L Lam
Keyword(s):  
Breast Cancer ◽  
Breast Lesions ◽  
Lobular Breast Cancer

CDH1 germline mutations and hereditary lobular breast cancer

2016 ◽  
Vol 15 (2) ◽  
pp. 215-219 ◽  
Author(s):  
Giovanni Corso ◽  
Mattia Intra ◽  
Chiara Trentin ◽  
Paolo Veronesi ◽  
Viviana Galimberti
Keyword(s):  
Breast Cancer ◽  
Germline Mutations ◽  
Lobular Breast Cancer

ABCB1/MDR1 contributes to the anticancer drug-resistant phenotype of IPH-926 human lobular breast cancer cells

2012 ◽  
Vol 315 (2) ◽  
pp. 153-160 ◽  
Author(s):  
Till Krech ◽  
Elisa Scheuerer ◽  
Robert Geffers ◽  
Hans Kreipe ◽  
Ulrich Lehmann ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Cells ◽  
Anticancer Drug ◽  
Breast Cancer Cells ◽  
Drug Resistant ◽  
Lobular Breast Cancer ◽  
Resistant Phenotype ◽  
Drug Resistant Phenotype
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