Publications:

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Circulating tumour DNA analysis predicts relapse and improves risk stratification in primary refractory multiple myeloma.

Blood Cancer Journal

Mithraprabhu, Sridurga S; Reynolds, John J; Turner, Rose R; Quach, Hang H; Horvath, Noemi N; Kerridge, Ian I; Kalff, Anna A; Bergin, Krystal K; Hocking, Jay J; Yuen, Flora F; Khong, Tiffany T; Durie, Brian M BM; Spencer, Andrew A

Publication Date: 2023-02-13

Variant appearance in text: PIK3CA: 1145G>A; R382Q

PubMed Link: 36781844

Variant Present in the following documents:

• 41408_2023_796_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs587777794

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 5

View BVdb publication page

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: PIK3CA: 1145G>A; R382K

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: PIK3CA: 1145G>A

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: PIK3CA: 1145G>A; Arg382Lys; rs587777794

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Molecular Genetics & Genomic Medicine

Zollino, Marcella M; Ranieri, Carlotta C; Grossi, Valentina V; Leoni, Chiara C; Lattante, Serena S; Mazzà, Daniela D; Simone, Cristiano C; Resta, Nicoletta N

Publication Date: 2019-08

Variant appearance in text: PIK3CA: Arg382Lys

PubMed Link: 31290289

Variant Present in the following documents:

• Main text
• MGG3-7-e845.pdf

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: PIK3CA: R382K

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: PIK3CA: 1145G>A; Arg382Lys

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

View BVdb publication page

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NF1 mutations in conjunctival melanoma.

British Journal Of Cancer

Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG

Publication Date: 2018-05

Variant appearance in text: PIK3CA: 1145G>A; Arg382Lys

PubMed Link: 29559732

Variant Present in the following documents:

• 41416_2018_46_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Heterogeneity of genomic evolution and mutational profiles in multiple myeloma.

Nature Communications

Bolli, Niccolo N; Avet-Loiseau, Hervé H; Wedge, David C DC; Van Loo, Peter P; Alexandrov, Ludmil B LB; Martincorena, Inigo I; Dawson, Kevin J KJ; Iorio, Francesco F; Nik-Zainal, Serena S; Bignell, Graham R GR; Hinton, Jonathan W JW; Li, Yilong Y; Tubio, Jose M C JM; McLaren, Stuart S; O' Meara, Sarah S; Butler, Adam P AP; Teague, Jon W JW; Mudie, Laura L; Anderson, Elizabeth E; Rashid, Naim N; Tai, Yu-Tzu YT; Shammas, Masood A MA; Sperling, Adam S AS; Fulciniti, Mariateresa M; Richardson, Paul G PG; Parmigiani, Giovanni G; Magrangeas, Florence F; Minvielle, Stephane S; Moreau, Philippe P; Attal, Michel M; Facon, Thierry T; Futreal, P Andrew PA; Anderson, Kenneth C KC; Campbell, Peter J PJ; Munshi, Nikhil C NC

Publication Date: 2014

Variant appearance in text: PIK3CA: 1145G>A

PubMed Link: 24429703

Variant Present in the following documents:

• ncomms3997-s2.xlsx, sheet 1

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Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

American Journal Of Human Genetics

Orloff, Mohammed S MS; He, Xin X; Peterson, Charissa C; Chen, Fusong F; Chen, Jin-Lian JL; Mester, Jessica L JL; Eng, Charis C

Publication Date: 2013-01-10

Variant appearance in text: PIK3CA: 1145G>A

PubMed Link: 23246288

Variant Present in the following documents:

• Main text

View BVdb publication page

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