Publications:

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: LAMA5: 6578G>A; Arg2193His; rs139401504

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10
• pone.0194098.s003.xlsx, sheet 9

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Integrative genomic and functional analysis of human oral squamous cell carcinoma cell lines reveals synergistic effects of FAT1 and CASP8 inactivation.

Cancer Letters

Hayes, Tyler F TF; Benaich, Nathan N; Goldie, Stephen J SJ; Sipilä, Kalle K; Ames-Draycott, Ashley A; Cai, Wenjun W; Yin, Guangliang G; Watt, Fiona M FM

Publication Date: 2016-12-01

Variant appearance in text: LAMA5: R2193H; rs139401504

PubMed Link: 27693639

Variant Present in the following documents:

• mmc3.xls, sheet 1

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Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.

Scientific Reports

Timofeeva, Maria N MN; Kinnersley, Ben B; Farrington, Susan M SM; Whiffin, Nicola N; Palles, Claire C; Svinti, Victoria V; Lloyd, Amy A; Gorman, Maggie M; Ooi, Li-Yin LY; Hosking, Fay F; Barclay, Ella E; Zgaga, Lina L; Dobbins, Sara S; Martin, Lynn L; Theodoratou, Evropi E; Broderick, Peter P; Tenesa, Albert A; Smillie, Claire C; Grimes, Graeme G; Hayward, Caroline C; Campbell, Archie A; Porteous, David D; Deary, Ian J IJ; Harris, Sarah E SE; Northwood, Emma L EL; Barrett, Jennifer H JH; Smith, Gillian G; Wolf, Roland R; Forman, David D; Morreau, Hans H; Ruano, Dina D; Tops, Carli C; Wijnen, Juul J; Schrumpf, Melanie M; Boot, Arnoud A; Vasen, Hans F A HF; Hes, Frederik J FJ; van Wezel, Tom T; Franke, Andre A; Lieb, Wolgang W; Schafmayer, Clemens C; Hampe, Jochen J; Buch, Stephan S; Propping, Peter P; Hemminki, Kari K; Försti, Asta A; Westers, Helga H; Hofstra, Robert R; Pinheiro, Manuela M; Pinto, Carla C; Teixeira, Manuel M; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; Campbell, Harry H; Bishop, D Timothy DT; Tomlinson, Ian P M IP; Dunlop, Malcolm G MG; Houlston, Richard S RS

Publication Date: 2015-11-10

Variant appearance in text: rs139401504

PubMed Link: 26553438

Variant Present in the following documents:

• srep16286-s1.pdf

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: LAMA5: R2193H; rs139401504

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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