Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: BLM: P868L

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: BLM: P868L; rs2227935

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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RecQ Helicase Somatic Alterations in Cancer.

Frontiers In Molecular Biosciences

Thakkar, Megha K MK; Lee, Jamie J; Meyer, Stefan S; Chang, Vivian Y VY

Publication Date: 2022

Variant appearance in text: BLM: P868L

PubMed Link: 35782872

Variant Present in the following documents:

• Main text
• fmolb-09-887758.pdf

View BVdb publication page

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Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Frontiers In Molecular Biosciences

Tsutakawa, Susan E SE; Bacolla, Albino A; Katsonis, Panagiotis P; Bralić, Amer A; Hamdan, Samir M SM; Lichtarge, Olivier O; Tainer, John A JA; Tsai, Chi-Lin CL

Publication Date: 2021

Variant appearance in text: BLM: P868L

PubMed Link: 34966786

Variant Present in the following documents:

• Main text
• fmolb-08-791792.pdf

View BVdb publication page

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Large chromosomal deletions and impaired homologous recombination repairing in HEK293T cells exposed to polychlorinated biphenyl 153.

Peerj

Li, Jiaci J; Jing, Yaqing Y; Liu, Yi Y; Ru, Yawei Y; Ju, Mingyan M; Zhao, Yuxia Y; Li, Guang G

Publication Date: 2021

Variant appearance in text: BLM: 2603C>T; Pro868Leu

PubMed Link: 34395077

Variant Present in the following documents:

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: BLM: 2603C>T; P868L; rs2227935

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19.

Heliyon

Al-Mulla, Fahd F; Mohammad, Anwar A; Al Madhoun, Ashraf A; Haddad, Dania D; Ali, Hamad H; Eaaswarkhanth, Muthukrishnan M; John, Sumi Elsa SE; Nizam, Rasheeba R; Channanath, Arshad A; Abu-Farha, Mohamed M; Ahmad, Rasheed R; Abubaker, Jehad J; Thanaraj, Thangavel Alphonse TA

Publication Date: 2021-02

Variant appearance in text: rs2227935

PubMed Link: 33532652

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: BLM: 2603C>T; P868L

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.

Molecular Oncology

Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR

Publication Date: 2021-02

Variant appearance in text: BLM: P868L

PubMed Link: 33169510

Variant Present in the following documents:

• MOL2-15-381-s009.xlsx, sheet 1

View BVdb publication page

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Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.

Scientific Reports

Alzahrani, Faisal A FA; Ahmed, Firoz F; Sharma, Monika M; Rehan, Mohd M; Mahfuz, Maryam M; Baeshen, Mohammed N MN; Hawsawi, Yousef Y; Almatrafi, Ahmed A; Alsagaby, Suliman Abdallah SA; Kamal, Mohammad Azhar MA; Warsi, Mohiuddin Khan MK; Choudhry, Hani H; Jamal, Mohammad Sarwar MS

Publication Date: 2020-07-23

Variant appearance in text: BLM: P868L

PubMed Link: 32704157

Variant Present in the following documents:

• Main text
• 41598_2020_Article_69033.pdf
• 41598_2020_69033_MOESM3_ESM.xlsx, sheet 1
• 41598_2020_69033_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Journal Of Translational Medicine

Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M

Publication Date: 2020-06-10

Variant appearance in text: BLM: 2603C>T; Pro868Leu

PubMed Link: 32522261

Variant Present in the following documents:

• 12967_2020_2391_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: BLM: P868L

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: BLM: 2603C>T; P868L; rs2227935

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: BLM: 2603C>T; Pro868Leu; rs2227935

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: BLM: P868L; rs2227935

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM12_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports

Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP

Publication Date: 2019-09-23

Variant appearance in text: BLM: Pro868Leu; rs2227935

PubMed Link: 31548566

Variant Present in the following documents:

• 41598_2019_49611_MOESM1_ESM.pdf

View BVdb publication page

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Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Hereditary Cancer In Clinical Practice

Buckingham, Lela L; Mitchell, Rachel R; Maienschein-Cline, Mark M; Green, Stefan S; Hu, Vincent Hong VH; Cobleigh, Melody M; Rotmensch, Jacob J; Burgess, Kelly K; Usha, Lydia L

Publication Date: 2019

Variant appearance in text: BLM: P868L

PubMed Link: 31346352

Variant Present in the following documents:

• Main text
• 13053_2019_Article_117.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: BLM: 2603C>T; Pro868Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: BLM: P868L

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: BLM: 2603C>T; rs2227935

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: BLM: P868L

PubMed Link: 29649263

Variant Present in the following documents:

• pone.0195761.s005.xlsx, sheet 1

View BVdb publication page

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A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal

White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH

Publication Date: 2018-03-21

Variant appearance in text: BLM: P868L

PubMed Link: 29563506

Variant Present in the following documents:

• 41408_2018_62_MOESM1_ESM.xls, sheet 8

View BVdb publication page

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Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

American Journal Of Human Genetics

Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, Michał M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C

Publication Date: 2017-08-03

Variant appearance in text: rs2227935

PubMed Link: 28757201

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BLM: 2603C>T; Pro868Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: BLM: P868L

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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Manipulation of DNA Repair Proficiency in Mouse Models of Colorectal Cancer.

Biomed Research International

Mcilhatton, Michael A MA; Boivin, Gregory P GP; Groden, Joanna J

Publication Date: 2016

Variant appearance in text: BLM: P868L

PubMed Link: 27413734

Variant Present in the following documents:

• Main text
• BMRI2016-1414383.pdf

View BVdb publication page

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Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

Molecular Genetics & Genomic Medicine

Shastri, Vivek M VM; Schmidt, Kristina H KH

Publication Date: 2016-01

Variant appearance in text: BLM: P868L

PubMed Link: 26788541

Variant Present in the following documents:

• Main text
• MGG3-4-106-s001.pdf
• MGG3-4-106.pdf

View BVdb publication page

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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)

Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY

Publication Date: 2016-02

Variant appearance in text: BLM: 2603C>T; Pro868Leu; rs2227935

PubMed Link: 26680607

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 2

View BVdb publication page

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Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer.

Oncotarget

Nicolas, Emmanuelle E; Arora, Sanjeevani S; Zhou, Yan Y; Serebriiskii, Ilya G IG; Andrake, Mark D MD; Handorf, Elizabeth D ED; Bodian, Dale L DL; Vockley, Joseph G JG; Dunbrack, Roland L RL; Ross, Eric A EA; Egleston, Brian L BL; Hall, Michael J MJ; Golemis, Erica A EA; Giri, Veda N VN; Daly, Mary B MB

Publication Date: 2015-11-24

Variant appearance in text: BLM: P868L

PubMed Link: 26485759

Variant Present in the following documents:

• Main text
• oncotarget-06-39614.pdf
• oncotarget-06-39614-s005.xls, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BLM: P868L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: BLM: 2603C>T; P868L

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: BLM: P868L

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: BLM: P868L

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: BLM: P868L

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: BLM: P868L

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: BLM: P868L

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1
• pone.0094554.s002.xlsx, sheet 3

View BVdb publication page

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Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Mirzaei, Hamed H; Schmidt, Kristina H KH

Publication Date: 2012-11-20

Variant appearance in text: BLM: P868L

PubMed Link: 23129629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Plos Genetics

Thompson, Ella R ER; Doyle, Maria A MA; Ryland, Georgina L GL; Rowley, Simone M SM; Choong, David Y H DY; Tothill, Richard W RW; Thorne, Heather H; , ; Barnes, Daniel R DR; Li, Jason J; Ellul, Jason J; Philip, Gayle K GK; Antill, Yoland C YC; James, Paul A PA; Trainer, Alison H AH; Mitchell, Gillian G; Campbell, Ian G IG

Publication Date: 2012-09

Variant appearance in text: BLM: 2603C>T

PubMed Link: 23028338

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study.

Bmc Cancer

Broberg, Karin K; Huynh, Elizabeth E; Schläwicke Engström, Karin K; Björk, Jonas J; Albin, Maria M; Ingvar, Christian C; Olsson, Håkan H; Höglund, Mattias M

Publication Date: 2009-05-11

Variant appearance in text: BLM: Pro868Leu

PubMed Link: 19432957

Variant Present in the following documents:

• Main text
• 1471-2407-9-140.pdf

View BVdb publication page

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