scholarly journals Whole Exome Sequencing in the Male Breast Cancer with Prolactinoma: A Case Report and Literature Review

2020 ◽  
Vol 23 (6) ◽  
pp. 656
Author(s):  
Shuai Hao ◽  
Miao Huang ◽  
Wuguo Tian ◽  
Yi Chen ◽  
Jianjie Zhao ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Literature Review ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Male Breast Cancer ◽  
Male Breast ◽  
Whole Exome

scholarly journals Ablepharon macrostomia syndrome in a Thai patient: case report and literature review

2020 ◽  
Vol 14 (2) ◽  
pp. 83-88
Author(s):  
Phawin Kor-anantakul ◽  
Kanya Suphapeetiporn ◽  
Somchit Jaruratanasirikul
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sequencing Analysis ◽  
Patient Case ◽  
Thai Patient ◽  
Labia Minora ◽  
Whole Exome ◽  
Rare Congenital Disorder

AbstractAblepharon macrostomia syndrome (AMS) is a rare congenital disorder. To our knowledge, only 20 cases have been reported to date, and all in patients from Western countries. We report a case of AMS in a Thai patient, who presented at age 3 months with severe ectropion of both upper and lower eyelids, alopecia totalis, no palpable clitoris, and hypoplasia of both labia minora and labia majora. Trio whole exome sequencing analysis was performed, which revealed a heterozygous missense c.223G>A (p.Glu75Lys) variation in TWIST2. To our knowledge, this is the first reported case of AMS in a patient from Thailand and the first reported case of AMS in Asia.

scholarly journals Oncotype DX for Comprehensive Treatment in Male Breast Cancer: A Case Report and Literature Review

2019 ◽  
Vol 13 (3) ◽  
pp. 155798831984785 ◽  
Author(s):  
Ang Zheng ◽  
Lin Zhang ◽  
Ziyao Ji ◽  
Lijuan Fan ◽  
Feng Jin
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Literature Review ◽  
Male Breast Cancer ◽  
Oncotype Dx ◽  
Male Breast ◽  
Comprehensive Treatment

Radiologic Findings of Male Breast Cancer: A Case Report

1994 ◽  
Vol 31 (4) ◽  
pp. 759
Author(s):  
Kyung Joo Park ◽  
Chun Hwan Han ◽  
Jeong Geun Yi ◽  
Joo Hyuk Lee
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Male Breast Cancer ◽  
Male Breast ◽  
Radiologic Findings

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

scholarly journals Searching for the missing genetic determinants of hereditary breast cancer risk by whole-exome sequencing of BRCA-negative patients: new candidate genes USP39, SLIT3, CREB3

2021 ◽  
Vol 67 (1) ◽  
pp. 111-116
Author(s):  
Kirill Zagorodnev ◽  
Aleksandr Romanko ◽  
Uliy Gorgul ◽  
Aleksandr Ivantsov ◽  
Anna Sokolenko ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Whole Exome Sequencing ◽  
Hereditary Breast Cancer ◽  
Germ Line ◽  
Genetic Diagnosis ◽  
Clinical Signs ◽  
Causative Mutation ◽  
Whole Exome

The search for the new hereditary mutations and a precise molecular genetic diagnosis that determines the causative mutation in each specific case of hereditary breast cancer (BC) is a clinically important task since it helps to define the personal therapeutic approach and increase the effectiveness of preventive measures. Using whole-exome sequencing (WES) we analyzed the full spectrum of hereditary variations in 49 Russian patients with clinical signs of a hereditary disease which allowed us to compile a list of 229 candidate probably pathogenic germ-line variants. Then, the selected candidate mutations were validated by Sanger sequencing and molecular-epidemiological studies, the predisposing roles of three oncologically relevant mutations (USP39 c.*208G>C, SLIT3 p.Arg154Cys, and CREB3 p.Lys157Glu) were confirmed. Our candidate genes are first mentioned in connection with the hereditary risk of BC. The final proofs of the causative roles of these variants could be obtained through functional tests as well as via the analysis of the mutations segregation in BC families.

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