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: PC: P623S; rs774882026

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Unique evolutionary trajectories of breast cancers with distinct genomic and spatial heterogeneity.

Scientific Reports

Phung, Tanya N TN; Webster, Timothy H TH; Lenkiewicz, Elizabeth E; Malasi, Smriti S; Andreozzi, Mariacarla M; McCullough, Ann E AE; Anderson, Karen S KS; Pockaj, Barbara A BA; Wilson, Melissa A MA; Barrett, Michael T MT

Publication Date: 2021-05-19

Variant appearance in text: PC: P623S

PubMed Link: 34011996

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PC: 1867C>T; P623S

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: PC: 1867C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

---

Olaparib is effective in combination with, and as maintenance therapy after, first-line endocrine therapy in prostate cancer cells.

Molecular Oncology

Feiersinger, Gertrud E GE; Trattnig, Kristina K; Leitner, Peter D PD; Guggenberger, Fabian F; Oberhuber, Alexander A; Peer, Sarah S; Hermann, Martin M; Skvortsova, Ira I; Vrbkova, Jana J; Bouchal, Jan J; Culig, Zoran Z; Santer, Frédéric R FR

Publication Date: 2018-04

Variant appearance in text: PC: 1867C>T

PubMed Link: 29465803

Variant Present in the following documents:

• MOL2-12-561-s006.xlsx, sheet 5

View BVdb publication page

---

Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: PC: P623S; rs774882026

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

View BVdb publication page

---

Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Acta Neuropathologica Communications

Aihara, Koki K; Mukasa, Akitake A; Nagae, Genta G; Nomura, Masashi M; Yamamoto, Shogo S; Ueda, Hiroki H; Tatsuno, Kenji K; Shibahara, Junji J; Takahashi, Miwako M; Momose, Toshimitsu T; Tanaka, Shota S; Takayanagi, Shunsaku S; Yanagisawa, Shunsuke S; Nejo, Takahide T; Takahashi, Satoshi S; Omata, Mayu M; Otani, Ryohei R; Saito, Kuniaki K; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Aburatani, Hiroyuki H; Saito, Nobuhito N

Publication Date: 2017-03-07

Variant appearance in text: PC: P623S

PubMed Link: 28270234

Variant Present in the following documents:

• 40478_2017_422_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: PC: P623S

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PC: 1867C>T; P623S

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: PC: 1867C>T; P623S

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

---

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Nature Communications

Schulz, Eduard E; Klampfl, Petra P; Holzapfel, Stefanie S; Janecke, Andreas R AR; Ulz, Peter P; Renner, Wilfried W; Kashofer, Karl K; Nojima, Satoshi S; Leitner, Anita A; Zebisch, Armin A; Wölfler, Albert A; Hofer, Sybille S; Gerger, Armin A; Lax, Sigurd S; Beham-Schmid, Christine C; Steinke, Verena V; Heitzer, Ellen E; Geigl, Jochen B JB; Windpassinger, Christian C; Hoefler, Gerald G; Speicher, Michael R MR; Boland, C Richard CR; Kumanogoh, Atsushi A; Sill, Heinz H

Publication Date: 2014-10-13

Variant appearance in text: PC: 1867C>T

PubMed Link: 25307848

Variant Present in the following documents:

• ncomms6191-s1.pdf

View BVdb publication page

---