scholarly journals Chromosomal region 15q21.1 is a frequent target of allelic imbalance in advanced breast carcinomas

2003 ◽  
Vol 106 (1) ◽  
pp. 74-77 ◽  
Author(s):  
Kerstin Rhiem ◽  
Annette Klein ◽  
Miriam Münch ◽  
Rene Kreutzfeld ◽  
Juliane Ramser ◽  
...  
Keyword(s):  
Allelic Imbalance ◽  
Chromosomal Region ◽  
Advanced Breast ◽  
Breast Carcinomas

scholarly journals Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma

2020 ◽  
Vol 102 ◽  
Author(s):  
Yael Laitman ◽  
Shay Tzur ◽  
Ruben Attali ◽  
Amit Tirosh ◽  
Eitan Friedman
Keyword(s):  
Allelic Imbalance ◽  
Chromosomal Region ◽  
Cancer Susceptibility ◽  
Functional Studies ◽  
Cancer Susceptibility Genes ◽  
Whole Exome ◽  
Familial Pheochromocytoma ◽  
The Family ◽  
Recombination Processes

Abstract Pheochromocytoma (PCC) is a rare, mostly benign tumour of the adrenal medulla. Hereditary PCC accounts for ~35% of cases and has been associated with germline mutations in several cancer susceptibility genes (e.g., KIF1B, SDHB, VHL, SDHD, RET). We performed whole-exome sequencing in a family with four PCC-affected patients in two consecutive generations and identified a potential novel candidate pathogenic variant in the REXO2 gene that affects splicing (c.531-1G>T (NM 015523.3)), which co-segregated with the phenotype in the family. REXO2 encodes for RNA exonuclease 2 protein and localizes to 11q23, a chromosomal region displaying allelic imbalance in PCC. REXO2 protein has been associated with DNA repair, replication and recombination processes and thus its inactivation may contribute to tumorigenesis. While the study suggests that this novel REXO2 gene variant underlies PCC in this family, additional functional studies are required in order to establish the putative role of the REXO2 gene in PCC predisposition.

Expression of the GST? Gene and Response to Tamoxifen Therapy in Locally Advanced Breast Carcinomas

1993 ◽  
Vol 698 (1 Breast Cancer) ◽  
pp. 182-185
Author(s):  
F. DORION-BONNET ◽  
N. QUÉNEL ◽  
J. M. COINDRE ◽  
L. MAURIAC ◽  
F. BONICHON ◽  
...  
Keyword(s):  
Locally Advanced ◽  
Tamoxifen Therapy ◽  
Advanced Breast ◽  
Breast Carcinomas

scholarly journals Concordance of allelic imbalance profiles in synchronous and metachronous bilateral breast carcinomas

2002 ◽  
Vol 100 (5) ◽  
pp. 557-564 ◽  
Author(s):  
Evgeny N. Imyanitov ◽  
Evgeny N. Suspitsin ◽  
Maxim Yu. Grigoriev ◽  
Alexandr V. Togo ◽  
Ekatherina Sh. Kuligina ◽  
...  
Keyword(s):  
Allelic Imbalance ◽  
Breast Carcinomas

scholarly journals High levels of DNA index heterogeneity in advanced breast carcinomas. Evidence for DNA ploidy differences between lymphatic and hematogenous metastases

Cancer ◽  
1993 ◽  
Vol 71 (2) ◽  
pp. 382-391 ◽  
Author(s):  
Bert A. Bonsing ◽  
Henk Beerman ◽  
Nel Kuipers-Dijkshoorn ◽  
Gert Jan Fleuren ◽  
Cees J. Cornelisse
Keyword(s):  
Dna Ploidy ◽  
Advanced Breast ◽  
Breast Carcinomas ◽  
Dna Index

Allelic imbalance and fine mapping of the 17p13.3 subregion in sporadic breast carcinomas

2001 ◽  
Vol 129 (2) ◽  
pp. 145-149 ◽  
Author(s):  
Céline Hoff ◽  
Jan Mollenhauer ◽  
Ben Waldau ◽  
Ute Hamann ◽  
Annemarie Poustka
Keyword(s):  
Fine Mapping ◽  
Allelic Imbalance ◽  
Breast Carcinomas

Genomic patterns of allelic imbalance in disease free tissue adjacent to primary breast carcinomas

2004 ◽  
Vol 88 (2) ◽  
pp. 131-139 ◽  
Author(s):  
Darrell L. Ellsworth ◽  
Rachel E. Ellsworth ◽  
Brad Love ◽  
Brenda Deyarmin ◽  
Susan M. Lubert ◽  
...  
Keyword(s):  
Allelic Imbalance ◽  
Breast Carcinomas ◽  
Genomic Patterns ◽  
Disease Free

Her-2/neu expression in locally advanced breast carcinomas: pre- and post-neoadjuvant chemotherapy

Breast Cancer ◽  
2005 ◽  
Vol 12 (4) ◽  
pp. 294-298 ◽  
Author(s):  
M. Ruhul Quddus ◽  
◽  
C. James Sung ◽  
Cunxian Zhang ◽  
Terese Pasqueriello ◽  
...  
Keyword(s):  
Neoadjuvant Chemotherapy ◽  
Locally Advanced ◽  
Advanced Breast ◽  
Breast Carcinomas ◽  
Her 2
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