scholarly journals [Erratum] BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report

2018 ◽  
Author(s):  
Bondavalli Davide ◽  
Malvestiti Francesca ◽  
Pensotti Valeria ◽  
Feroce Irene ◽  
Bonanni Bernardo
Keyword(s):  
Case Report ◽  
Fanconi Anemia ◽  
Unclassified Variant

scholarly journals BRCA1 homozygous unclassified variant in a patient with non‑Fanconi anemia: A case report

2017 ◽  
Author(s):  
Bondavalli Davide ◽  
Malvestiti Francesca ◽  
Pensotti Valeria ◽  
Feroce Irene ◽  
Bonanni Bernardo
Keyword(s):  
Case Report ◽  
Fanconi Anemia ◽  
Unclassified Variant

scholarly journals Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report

2014 ◽  
Vol 64 (3) ◽  
pp. 201-204
Author(s):  
Zafer Dogan ◽  
Huseyin Yildiz ◽  
Ismail Coskuner ◽  
Murat Uzel ◽  
Mesut Garipardic
Keyword(s):  
Case Report ◽  
Fanconi Anemia ◽  
Dislocation Of The Hip

scholarly journals Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Andrew T. Schlussel ◽  
Susan S. Donlon ◽  
Faye A. Eggerding ◽  
Ronald A. Gagliano
Keyword(s):  
Case Report ◽  
Familial Adenomatous Polyposis ◽  
Apc Gene ◽  
Adenomatous Polyposis ◽  
Invasive Adenocarcinoma ◽  
Unclassified Variant ◽  
Attenuated Familial Adenomatous Polyposis ◽  
Mutant Variant ◽  
Pathogenic Analysis ◽  
Tumor Dna

Introduction.The objective of this case report is to discuss an unclassified germline variant of the adenomatous polyposis coli (APC) gene identified in an older patient with attenuated familial adenomatous polyposis syndrome (AFAP).Methods.We present a case report of a 66-year-old man diagnosed with AFAP. Colonoscopy found multiple polyps and invasive adenocarcinoma arising in the transverse colon. Samples were tested for mutations in the APC gene.Results.DNA sequencing of germline DNA identified a cytosine (C) to thymine (T) transition at nucleotide 1240, heterozygous. The C to T transition at codon 414 is predicted to convert an arginine residue to a cysteine that is possibly pathogenic. Analysis of the patient’s colon tumor DNA indicated that the tumor had lost the mutant variant allele and retained only the normal allele, suggesting that the variant may not be significant.Conclusions.The p.R414C variant has been described previously as a germline mutation of probable pathogenicity. This substitution should be considered an unclassified variant and possibly not pathogenic. These findings support the need for further genetic testing of tissue, as well as for developing a mechanism for testing all variants, as this could significantly impact the lives of patients and their family members.

scholarly journals Squamous cell carcinoma of the tongue in a patient with Fanconi anemia treated with surgery and bioradiotherapy: A case report

2021 ◽  
Vol 33 (3) ◽  
pp. 119-125
Author(s):  
Tomofumi Naruse ◽  
Hiroki Tsuchihashi ◽  
Souichi Yanamoto ◽  
Kohei Furukawa ◽  
Keisuke Omori ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Carcinoma Of The Tongue

scholarly journals Fanconi anemia in twins with neutropenia: A case report

2018 ◽  
Author(s):  
Wenjun Deng ◽  
Mingyi Zhao ◽  
Yingting Liu ◽  
Lizhi Cao ◽  
Minghua Yang
Keyword(s):  
Case Report ◽  
Fanconi Anemia

Squamous Cell Carcinoma of the Tongue in a Child with Fanconi Anemia: A Case Report and Review of the Literature

1995 ◽  
Vol 15 (4) ◽  
pp. 597-607 ◽  
Author(s):  
Gino R. Somers ◽  
Sepehr N. Tabrizi ◽  
Karin Tiedemann ◽  
Chung Wo Chow ◽  
Suzanne M. Garland ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Case Report ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Review Of The Literature ◽  
Carcinoma Of The Tongue

Fanconi anemia with biallelic FANCD1/BRCA2 mutations – Case report of a family with three affected children

2016 ◽  
Vol 59 (3) ◽  
pp. 152-157 ◽  
Author(s):  
Karel Svojgr ◽  
David Sumerauer ◽  
Alena Puchmajerova ◽  
Ales Vicha ◽  
Ondrej Hrusak ◽  
...  
Keyword(s):  
Case Report ◽  
Fanconi Anemia ◽  
Brca2 Mutations

scholarly journals Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Anna Repczynska ◽  
Agata Pastorczak ◽  
Katarzyna Babol-Pokora ◽  
Jolanta Skalska-Sadowska ◽  
Malgorzata Drozniewska ◽  
...  
Keyword(s):  
Case Report ◽  
Fanconi Anemia ◽  
Polish Population
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