Publications:

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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: PALB2: 3478T>C; Ser1160Pro

PubMed Link: 35585550

Variant Present in the following documents:

• 13073_2022_1052_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy

Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J

Publication Date: 2022-01-26

Variant appearance in text: PALB2: S1160P

PubMed Link: 35078970

Variant Present in the following documents:

• 41392_2021_838_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.

Signal Transduction And Targeted Therapy

Zhou, Shao-Lai SL; Zhou, Zheng-Jun ZJ; Song, Cheng-Li CL; Xin, Hao-Yang HY; Hu, Zhi-Qiang ZQ; Luo, Chu-Bin CB; Luo, Yi-Jie YJ; Li, Jia J; Dai, Zhi Z; Yang, Xin-Rong XR; Shi, Ying-Hong YH; Wang, Zheng Z; Huang, Xiao-Wu XW; Fan, Jia J; Zhou, Jian J

Publication Date: 2022-01-26

Variant appearance in text: PALB2: S1160P

PubMed Link: 35078970

Variant Present in the following documents:

• 41392_2021_838_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences

Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H

Publication Date: 2020

Variant appearance in text: PALB2: 3478T>C; S1160P

PubMed Link: 33195396

Variant Present in the following documents:

• fmolb-07-00169.pdf

View BVdb publication page

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Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications

Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H

Publication Date: 2019-11-22

Variant appearance in text: PALB2: S1160P

PubMed Link: 31757951

Variant Present in the following documents:

• 41467_2019_13194_MOESM1_ESM.pdf
• 41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
• 41467_2019_Article_13194.pdf

View BVdb publication page

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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science

Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M

Publication Date: 2020-02

Variant appearance in text: PALB2: 3478T>C; Ser1160Pro

PubMed Link: 31742824

Variant Present in the following documents:

• CAS-111-647-s002.xlsx, sheet 1

View BVdb publication page

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