Publications:

Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data.

Annals Of Translational Medicine

Kim, Ji-Yeon JY; Jeong, Hyoung-Oh HO; Heo, Dae Seog DS; Keam, Bhumsuk B; Moon, Kyung Chul KC; Kwak, Cheol C; Jang, Jinho J; Kim, Seunghoon S; Kim, Jong-Il JI; Lee, Semin S; Lee, Se-Hoon SH

Publication Date: 2020-11

Variant appearance in text: FH: Lys230Glu

PubMed Link: 33313134

Variant Present in the following documents:

• Main text
• atm-08-21-1389.pdf

View BVdb publication page

Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.

Annals Of Laboratory Medicine

Seo, Ja Young JY; Ahn, Jeong-Yeal JY; Keam, Bhumsuk B; Kim, Miso M; Yoon, Shinkyo S; Lee, Jae Lyun JL; Park, Kwonoh K; Park, Inkeun I

Publication Date: 2021-03-01

Variant appearance in text: FH: 688A>G; K230E

PubMed Link: 33063682

Variant Present in the following documents:

• Main text
• ALM-41-207.pdf

View BVdb publication page

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 688A>G; Lys230Glu

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: FH: 688A>G; K230E

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Long-term response of metastatic hereditary leiomyomatosis and renal cell carcinoma syndrome associated renal cell carcinoma to bevacizumab plus erlotinib after temsirolimus and axitinib treatment failures.

Bmc Urology

Park, Inkeun I; Shim, Young Sup YS; Go, Heounjeong H; Hong, Bum Sik BS; Lee, Jae Lyun JL

Publication Date: 2019-06-10

Variant appearance in text: FH: 688A>G; Lys230Glu

PubMed Link: 31182090

Variant Present in the following documents:

• Main text
• 12894_2019_Article_484.pdf

View BVdb publication page