Publications:

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: 1390+6T>A

PubMed Link: 32612247

Variant Present in the following documents:

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

View BVdb publication page

Ancestry-specific predisposing germline variants in cancer.

Genome Medicine

Oak, Ninad N; Cherniack, Andrew D AD; Mashl, R Jay RJ; , ; Hirsch, Fred R FR; Ding, Li L; Beroukhim, Rameen R; Gümüş, Zeynep H ZH; Plon, Sharon E SE; Huang, Kuan-Lin KL

Publication Date: 2020-05-29

Variant appearance in text: FH: 1390+6T>A

PubMed Link: 32471518

Variant Present in the following documents:

• Main text
• 13073_2020_Article_744.pdf
• 13073_2020_744_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page