Publications:

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Medicine

Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF

Publication Date: 2022-05-18

Variant appearance in text: ATM: 640T>C; Ser214Pro

PubMed Link: 35585550

Variant Present in the following documents:

• 13073_2022_1052_MOESM2_ESM.xlsx, sheet 3

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Phosphorylation of MAD2 at Ser195 Promotes Spindle Checkpoint Defects and Sensitizes Cancer Cells to Radiotherapy in ATM Deficient Cells.

Frontiers In Cell And Developmental Biology

Wang, Yang Y; Yu, Tianyu T; Han, Yi Y; He, Yazhi Y; Song, Yiran Y; Guo, Leiming L; An, Liwei L; Yang, Chunying C; Wang, Feng F

Publication Date: 2022

Variant appearance in text: ATM: S214p

PubMed Link: 35309941

Variant Present in the following documents:

• Main text
• fcell-10-817831.pdf

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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: 640T>C; S214P

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Kinetochore protein MAD1 participates in the DNA damage response through ataxia-telangiectasia mutated kinase-mediated phosphorylation and enhanced interaction with KU80.

Cancer Biology & Medicine

Xiao, Mingming M; Li, Xuesong X; Su, Yang Y; Liu, Zhuang Z; Han, Yamei Y; Wang, Shuai S; Zeng, Qinghua Q; Liu, Hong H; Hao, Jianwei J; Xu, Bo B

Publication Date: 2020-08-15

Variant appearance in text: ATM: S214p

PubMed Link: 32944396

Variant Present in the following documents:

• Main text
• cbm-17-640.pdf

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Detection of Three Distinct Clonal Populations Using Circulating Cell Free DNA: A Cautionary Note on the Use of Liquid Biopsy.

Jco Precision Oncology

Riedlinger, Gregory M GM; Jalloul, Nahed N; Poplin, Elizabeth E; Mehnert, Janice M JM; Groisberg, Roman R; Khiabanian, Hossein H; Ganesan, Shridar S

Publication Date: 2019

Variant appearance in text: ATM: S214P

PubMed Link: 31588418

Variant Present in the following documents:

• Main text

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