Publications:

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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: ARID1A: R596H; rs1057523568

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications

Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA

Publication Date: 2022-10

Variant appearance in text: ARID1A: 1787G>A; R596H

PubMed Link: 36311816

Variant Present in the following documents:

• crc-22-0314-s02.xlsx, sheet 6

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: ARID1A: R596H

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Relevance of ARID1A Mutations in Endometrial Carcinomas.

Diagnostics (Basel, Switzerland)

De Leo, Antonio A; Ravegnini, Gloria G; Musiani, Francesco F; Maloberti, Thais T; Visani, Michela M; Sanza, Viviana V; Angelini, Sabrina S; Perrone, Anna Myriam AM; De Iaco, Pierandrea P; Corradini, Angelo Gianluca AG; Rosini, Francesca F; Grillini, Marco M; Santini, Donatella D; Ceccarelli, Claudio C; Zamagni, Claudio C; Tallini, Giovanni G; de Biase, Dario D

Publication Date: 2022-02-25

Variant appearance in text: ARID1A: Arg596His

PubMed Link: 35328145

Variant Present in the following documents:

• diagnostics-12-00592.pdf

View BVdb publication page

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Missense Variants Reveal Functional Insights Into the Human ARID Family of Gene Regulators.

Journal Of Molecular Biology

Deák, Gauri G; Cook, Atlanta G AG

Publication Date: 2022-05-15

Variant appearance in text: rs1057523568

PubMed Link: 35257783

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.

Oncotarget

Yamaura, Tadayoshi T; Miyoshi, Hiroyuki H; Maekawa, Hisatsugu H; Morimoto, Tomonori T; Yamamoto, Takehito T; Kakizaki, Fumihiko F; Higasa, Koichiro K; Kawada, Kenji K; Matsuda, Fumihiko F; Sakai, Yoshiharu Y; Taketo, M Mark MM

Publication Date: 2018-12-25

Variant appearance in text: ARID1A: R596H

PubMed Link: 30680068

Variant Present in the following documents:

• oncotarget-09-37534-s002.xlsx, sheet 1

View BVdb publication page

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