Publications:

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Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: FH: 53C>T; P18L

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FH: P18L; rs201887750

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Identification of RUNX1T1 as a potential epigenetic modifier in small-cell lung cancer.

Molecular Oncology

He, Tian T; Wildey, Gary G; McColl, Karen K; Savadelis, Alyssa A; Spainhower, Kyle K; McColl, Cassidy C; Kresak, Adam A; Tan, Aik Choon AC; Yang, Michael M; Abbas, Ata A; Dowlati, Afshin A

Publication Date: 2021-01

Variant appearance in text: FH: P18L

PubMed Link: 33084222

Variant Present in the following documents:

• Main text
• MOL2-15-195.pdf

View BVdb publication page

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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: 53C>T; Pro18Leu; rs201887750

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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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: 53C>T; P18L

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

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

Jia, Liwei L; Carlo, Maria I MI; Khan, Hina H; Nanjangud, Gouri J GJ; Rana, Satshil S; Cimera, Robert R; Zhang, Yanming Y; Hakimi, A Ari AA; Verma, Amit K AK; Al-Ahmadie, Hikmat A HA; Fine, Samson W SW; Gopalan, Anuradha A; Sirintrapun, S Joseph SJ; Tickoo, Satish K SK; Reuter, Victor E VE; Gartrell, Benjamin A BA; Chen, Ying-Bei YB

Publication Date: 2019-09

Variant appearance in text: FH: P18L

PubMed Link: 30980040

Variant Present in the following documents:

• NIHMS1523944-supplement-1.xlsx, sheet 1

View BVdb publication page

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Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.

Endocrine-Related Cancer

Aissani, Brahim B; Zhang, Kui K; Mensenkamp, Arjen R AR; Menko, Fred H FH; Wiener, Howard W HW

Publication Date: 2015-08

Variant appearance in text: FH: 53C>T; Pro18Leu

PubMed Link: 26113603

Variant Present in the following documents:

• Main text
• ERC150208.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: FH: P18L; rs201887750

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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