Publications:

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Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics

Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M

Publication Date: 2023-01-16

Variant appearance in text: ATM: 4306C>T

PubMed Link: 36647026

Variant Present in the following documents:

• 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
• 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Ataxia-Telangiectasia Mutated Loss of Heterozygosity in Melanoma.

International Journal Of Molecular Sciences

Pastorino, Lorenza L; Dalmasso, Bruna B; Allavena, Eleonora E; Vanni, Irene I; Ugolini, Filippo F; Baroni, Gianna G; Croce, Michela M; Guadagno, Antonio A; Cabiddu, Francesco F; Andreotti, Virginia V; Bruno, William W; Zoppoli, Gabriele G; Ferrando, Lorenzo L; Tanda, Enrica Teresa ET; Spagnolo, Francesco F; Menin, Chiara C; Gangemi, Rosaria R; Massi, Daniela D; Ghiorzo, Paola P

Publication Date: 2022-12-16

Variant appearance in text: ATM: 4306C>T; His1436Tyr

PubMed Link: 36555667

Variant Present in the following documents:

• ijms-23-16027.pdf

View BVdb publication page

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Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.

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

Dalmasso, B B; Pastorino, L L; Nathan, V V; Shah, N N NN; Palmer, J M JM; Howlie, M M; Johansson, P A PA; Freedman, N D ND; Carter, B D BD; Beane-Freeman, L L; Hicks, B B; Molven, A A; Helgadottir, H H; Sankar, A A; Tsao, H H; Stratigos, A J AJ; Helsing, P P; Van Doorn, R R; Gruis, N A NA; Visser, M M; Wadt, K A W KAW; Mann, G G; Holland, E A EA; Nagore, E E; Potrony, M M; Puig, S S; Menin, C C; Peris, K K; Fargnoli, M C MC; Calista, D D; Soufir, N N; Harland, M M; Bishop, T T; Kanetsky, P A PA; Elder, D E DE; Andreotti, V V; Vanni, I I; Bruno, W W; Höiom, V V; Tucker, M A MA; Yang, X R XR; Andresen, P A PA; Adams, D J DJ; Landi, M T MT; Hayward, N K NK; Goldstein, A M AM; Ghiorzo, P P; , ; ,

Publication Date: 2021-11

Variant appearance in text: rs544891616

PubMed Link: 34262154

Variant Present in the following documents:

• 41436_2021_1240_MOESM3_ESM.xlsx, sheet 1
• 41436_2021_1240_MOESM2_ESM.xlsx, sheet 1

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: ATM: 4306C>T; H1436Y; rs544891616

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.

European Urology Oncology

Karlsson, Questa Q; Brook, Mark N MN; Dadaev, Tokhir T; Wakerell, Sarah S; Saunders, Edward J EJ; Muir, Kenneth K; Neal, David E DE; Giles, Graham G GG; MacInnis, Robert J RJ; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Cannon-Albright, Lisa L; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Huff, Chad C; Li, Donghui D; Yao, Yu Y; Scheet, Paul P; Permuth, Jennifer B JB; Stanford, Janet L JL; Dai, James Y JY; Ostrander, Elaine A EA; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Hoegel, Josef J; Herkommer, Kathleen K; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Rathinakannan, Venkat V; Sipeky, Csilla C; Wiklund, Fredrik F; Grönberg, Henrik H; Aly, Markus M; Isaacs, William B WB; Dickinson, Jo L JL; FitzGerald, Liesel M LM; Chua, Melvin L K MLK; Nguyen-Dumont, Tu T; , ; Schaid, Daniel J DJ; Southey, Melissa C MC; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z

Publication Date: 2021-08

Variant appearance in text: ATM: 4306C>T; H1436Y

PubMed Link: 33436325

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1.

Cancers

Pastorino, Lorenza L; Andreotti, Virginia V; Dalmasso, Bruna B; Vanni, Irene I; Ciccarese, Giulia G; Mandalà, Mario M; Spadola, Giuseppe G; Pizzichetta, Maria Antonietta MA; Ponti, Giovanni G; Tibiletti, Maria Grazia MG; Sala, Elena E; Genuardi, Maurizio M; Chiurazzi, Pietro P; Maccanti, Gabriele G; Manoukian, Siranoush S; Sestini, Serena S; Danesi, Rita R; Zampiga, Valentina V; La Starza, Roberta R; Stanganelli, Ignazio I; Ballestrero, Alberto A; Mastracci, Luca L; Grillo, Federica F; Sciallero, Stefania S; Cecchi, Federica F; Tanda, Enrica Teresa ET; Spagnolo, Francesco F; Queirolo, Paola P; Italian Melanoma Intergroup (IMI), ; Goldstein, Alisa M AM; Bruno, William W; Ghiorzo, Paola P

Publication Date: 2020-04-19

Variant appearance in text: ATM: 4306C>T; His1436Tyr; rs544891616

PubMed Link: 32325837

Variant Present in the following documents:

• Main text
• cancers-12-01007.pdf

View BVdb publication page

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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: ATM: 4306C>T; His1436Tyr; rs544891616

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.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: ATM: 4306C>T; His1436Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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