Publications:

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: APC: R1105W; rs768454793

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: APC: R1105W

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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Genetic rearrangements, hotspot mutations, and microRNA expression in the progression of metastatic adenoid cystic carcinoma of the salivary gland.

Oncotarget

Andreasen, Simon S; Agander, Tina Klitmøller TK; Bjørndal, Kristine K; Erentaite, Daiva D; Heegaard, Steffen S; Larsen, Stine R SR; Melchior, Linea Cecilie LC; Tan, Qihua Q; Ulhøi, Benedicte Parm BP; Wessel, Irene I; Homøe, Preben P

Publication Date: 2018-04-13

Variant appearance in text: APC: 3313C>T; R1105W

PubMed Link: 29731974

Variant Present in the following documents:

• Main text
• oncotarget-09-19675.pdf

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Unique mutational profile associated with a loss of TDG expression in the rectal cancer of a patient with a constitutional PMS2 deficiency.

Dna Repair

Vasovcak, P P; Krepelova, A A; Menigatti, M M; Puchmajerova, A A; Skapa, P P; Augustinakova, A A; Amann, G G; Wernstedt, A A; Jiricny, J J; Marra, G G; Wimmer, K K

Publication Date: 2012-07-01

Variant appearance in text: APC: 3313C>T; R1105W

PubMed Link: 22608206

Variant Present in the following documents:

• Main text

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Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

Plos One

Vasovcak, Peter P; Pavlikova, Kristyna K; Sedlacek, Zdenek Z; Skapa, Petr P; Kouda, Martin M; Hoch, Jiri J; Krepelova, Anna A

Publication Date: 2011

Variant appearance in text: APC: 3313C>T; R1105W

PubMed Link: 21901162

Variant Present in the following documents:

• pone.0024114.s001.xls, sheet 3
• pone.0024114.s001.xls, sheet 1

View BVdb publication page