Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma-Reference-Cited by-同舟云学术

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

Published:2019-09-03 Issue:1 Volume:41 Page:103-109
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zhang Liying¹^ORCID,Walsh Michael F.²³^ORCID,Jairam Sowmya¹,Mandelker Diana¹,Zhong Yi¹⁴,Kemel Yelena⁴,Chen Ying‐Bei¹,Musheyev David⁵,Zehir Ahmet¹,Jayakumaran Gowtham¹,Brzostowski Edyta¹,Birsoy Ozge¹,Yang Ciyu¹,Li Yirong¹,Somar Joshua¹,DeLair Deborah⁶,Pradhan Nisha⁷,Berger Michael F.¹,Cadoo Karen³⁸,Carlo Maria I.³⁸,Robson Mark E.³⁸,Stadler Zsofia K.³⁸,Iacobuzio‐Donahue Christine A.¹⁹,Joseph Vijai³⁸,Offit Kenneth³⁸

Affiliation:

1. Department of PathologyMemorial Sloan Kettering Cancer Center New York City New York

2. Department of PediatricsMemorial Sloan Kettering Cancer Center New York City New York

3. Department of MedicineMemorial Sloan Kettering Cancer Center New York City New York

4. Niehaus Center for Inherited Cancer Genomics, Sloan Kettering InstituteMemorial Sloan Kettering Cancer Center New York City New York

5. Tel Aviv University Tel Aviv Israel

6. Department of PathologyNew York University Medical Center New York City New York

7. University of Colorado School of Medicine Aurora Colorado

8. Department of MedicineWeill Cornell Medical College New York City New York

9. Human Oncology and Pathogenesis ProgramMemorial Sloan Kettering Cancer Center New York City New York

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23900

Reference23 articles.

1. Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

2. Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature

3. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

4. Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome–associated Renal Cancer

5. Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency

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