Publications:

---

Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: rs4986839

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

---

Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology

Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R

Publication Date: 2019-11-19

Variant appearance in text: rs4986839

PubMed Link: 31744508

Variant Present in the following documents:

• 13045_2019_802_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: rs4986839

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4986839

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: rs4986839

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: rs4986839

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp007.pdf

View BVdb publication page

---

Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One

Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM

Publication Date: 2017

Variant appearance in text: rs4986839

PubMed Link: 28076423

Variant Present in the following documents:

• pone.0167581.s001.xlsx, sheet 1

View BVdb publication page

---

Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

Plos One

George Priya Doss, C C; Rajith, B B

Publication Date: 2012

Variant appearance in text: rs4986839

PubMed Link: 22529920

Variant Present in the following documents:

• Main text
• pone.0034573.pdf

View BVdb publication page

---

Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One

Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E

Publication Date: 2011

Variant appearance in text: rs4986839

PubMed Link: 21695249

Variant Present in the following documents:

• pone.0018158.s001.xls, sheet 5
• pone.0018158.s001.xls, sheet 3

View BVdb publication page

---

Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.

Breast Cancer Research : Bcr

Einarsdóttir, Kristjana K; Rosenberg, Lena U LU; Humphreys, Keith K; Bonnard, Carine C; Palmgren, Juni J; Li, Yuqing Y; Li, Yi Y; Chia, Kee S KS; Liu, Edison T ET; Hall, Per P; Liu, Jianjun J; Wedrén, Sara S

Publication Date: 2006

Variant appearance in text: rs4986839

PubMed Link: 17132159

Variant Present in the following documents:

View BVdb publication page

---