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: 583A>G; Met195Val

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Global metabolomic profiling of uterine leiomyomas.

British Journal Of Cancer

Heinonen, Hanna-Riikka HR; Mehine, Miika M; Mäkinen, Netta N; Pasanen, Annukka A; Pitkänen, Esa E; Karhu, Auli A; Sarvilinna, Nanna S NS; Sjöberg, Jari J; Heikinheimo, Oskari O; Bützow, Ralf R; Aaltonen, Lauri A LA; Kaasinen, Eevi E

Publication Date: 2017-12-05

Variant appearance in text: FH: M195V

PubMed Link: 29073636

Variant Present in the following documents:

• bjc2017361x2.xlsx, sheet 1

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Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.

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

Bennett, Jennifer A JA; Weigelt, Britta B; Chiang, Sarah S; Selenica, Pier P; Chen, Ying-Bei YB; Bialik, Ann A; Bi, Rui R; Schultheis, Anne M AM; Lim, Raymond S RS; Ng, Charlotte K Y CKY; Morales-Oyarvide, Vicente V; Young, Robert H RH; Reuter, Victor E VE; Soslow, Robert A RA; Oliva, Esther E

Publication Date: 2017-10

Variant appearance in text: FH: M195V

PubMed Link: 28664937

Variant Present in the following documents:

• Main text
• NIHMS883213-supplement-3.xlsx, sheet 1
• nihms883213.pdf

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MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

British Journal Of Cancer

Kämpjärvi, Kati K; Mäkinen, Netta N; Mehine, Miika M; Välipakka, Salla S; Uimari, Outi O; Pitkänen, Esa E; Heinonen, Hanna-Riikka HR; Heikkinen, Tuomas T; Tolvanen, Jaana J; Ahtikoski, Anne A; Frizzell, Norma N; Sarvilinna, Nanna N; Sjöberg, Jari J; Bützow, Ralf R; Aaltonen, Lauri A LA; Vahteristo, Pia P

Publication Date: 2016-06-14

Variant appearance in text: FH: 583A>G; M195V

PubMed Link: 27187686

Variant Present in the following documents:

• bjc2016130x2.pdf

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Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

The American Journal Of Surgical Pathology

Harrison, Wesley J WJ; Andrici, Juliana J; Maclean, Fiona F; Madadi-Ghahan, Raha R; Farzin, Mahtab M; Sioson, Loretta L; Toon, Christopher W CW; Clarkson, Adele A; Watson, Nicole N; Pickett, Justine J; Field, Michael M; Crook, Ashley A; Tucker, Katherine K; Goodwin, Annabel A; Anderson, Lyndal L; Srinivasan, Bhuvana B; Grossmann, Petr P; Martinek, Petr P; Ondič, Ondrej O; Hes, Ondřej O; Trpkov, Kiril K; Clifton-Bligh, Roderick J RJ; Dwight, Trisha T; Gill, Anthony J AJ

Publication Date: 2016-05

Variant appearance in text: FH: 583A>G; Met195Val

PubMed Link: 26574848

Variant Present in the following documents:

• pas-40-599.pdf

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