Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: ATM: 3993+5G>T

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

The Journal Of Pathology

Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Valenzuela-Palomo, Alberto A; Esteban-Sánchez, Ada A; Lorca, Víctor V; Llinares-Burguet, Inés I; Allen, Jamie J; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Durán, Mercedes M; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike Pg MP; de la Hoya, Miguel M; Velasco-Sampedro, Eladio A EA

Publication Date: 2022-09

Variant appearance in text: ATM: 3993+5G>T

PubMed Link: 35716007

Variant Present in the following documents:

• Main text
• PATH-258-83.pdf

View BVdb publication page

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A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One

Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND

Publication Date: 2019

Variant appearance in text: ATM: 3993+5G>T

PubMed Link: 31415627

Variant Present in the following documents:

• Main text
• pone.0220929.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: 3993+5G>T; rs3092842

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: 3993+5G>T

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: ATM: 3993+5G>T

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

American Journal Of Human Genetics

Tavtigian, Sean V SV; Oefner, Peter J PJ; Babikyan, Davit D; Hartmann, Anne A; Healey, Sue S; Le Calvez-Kelm, Florence F; Lesueur, Fabienne F; Byrnes, Graham B GB; Chuang, Shu-Chun SC; Forey, Nathalie N; Feuchtinger, Corinna C; Gioia, Lydie L; Hall, Janet J; Hashibe, Mia M; Herte, Barbara B; McKay-Chopin, Sandrine S; Thomas, Alun A; Vallée, Maxime P MP; Voegele, Catherine C; Webb, Penelope M PM; Whiteman, David C DC; , ; , ; , ; Sangrajrang, Suleeporn S; Hopper, John L JL; Southey, Melissa C MC; Andrulis, Irene L IL; John, Esther M EM; Chenevix-Trench, Georgia G

Publication Date: 2009-10

Variant appearance in text: ATM: 3993+5G>T

PubMed Link: 19781682

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs3092842

PubMed Link: 17132159

Variant Present in the following documents:

View BVdb publication page

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