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: APC: 95A>G

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

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Abrogation of self-tolerance by misfolded self-antigens complexed with MHC class II molecules.

Science Advances

Jin, Hui H; Kishida, Kazuki K; Arase, Noriko N; Matsuoka, Sumiko S; Nakai, Wataru W; Kohyama, Masako M; Suenaga, Tadahiro T; Yamamoto, Ken K; Sasazuki, Takehiko T; Arase, Hisashi H

Publication Date: 2022-03-04

Variant appearance in text: APC: N32S

PubMed Link: 35245125

Variant Present in the following documents:

• Main text
• sciadv.abj9867.pdf

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Circulating tumor DNA dynamics in advanced breast cancer treated with CDK4/6 inhibition and endocrine therapy.

Npj Breast Cancer

Martínez-Sáez, Olga O; Pascual, Tomás T; Brasó-Maristany, Fara F; Chic, Nuria N; González-Farré, Blanca B; Sanfeliu, Esther E; Rodríguez, Adela A; Martínez, Débora D; Galván, Patricia P; Rodríguez, Anna Belén AB; Schettini, Francesco F; Conte, Benedetta B; Vidal, Maria M; Adamo, Barbara B; Martínez, Antoni A; Muñoz, Montserrat M; Moreno, Reinaldo R; Villagrasa, Patricia P; Salvador, Fernando F; Ciruelos, Eva M EM; Faull, Iris I; Odegaard, Justin I JI; Prat, Aleix A

Publication Date: 2021-02-03

Variant appearance in text: APC: 95A>G; N32S; rs539108537

PubMed Link: 33536433

Variant Present in the following documents:

• 41523_2021_218_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine

He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH

Publication Date: 2020-01

Variant appearance in text: APC: 95A>G; Asn32Ser; rs539108537

PubMed Link: 32508039

Variant Present in the following documents:

• CTM2-10-353-s003.xlsx, sheet 3

View BVdb publication page

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: APC: 95A>G; Asn32Ser

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

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Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients.

Bmc Cancer

Lee, Jasmine J; Xiao, Yin-Yi YY; Sun, Yan Yu YY; Balderacchi, Jasminka J; Clark, Bradley B; Desani, Jatin J; Kumar, Vivek V; Saverimuthu, Angela A; Win, Khin Than KT; Huang, Yiwu Y; Xu, Yiqing Y

Publication Date: 2017-12-13

Variant appearance in text: APC: 95A>G

PubMed Link: 29237405

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3799.pdf

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: APC: N32S; rs539108537

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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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: APC: 95A>G; Asn32Ser

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: APC: 95A>G; Asn32Ser

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

World Journal Of Gastroenterology

Chang, Yuli Christine YC; Chang, Jan-Gowth JG; Liu, Ta-Chih TC; Lin, Chien-Yu CY; Yang, Shu-Fen SF; Ho, Cheng-Mao CM; Chen, William Tzu-Liang WT; Chang, Ya-Sian YS

Publication Date: 2016-02-21

Variant appearance in text: APC: 95A>G; Asn32Ser; rs539108537

PubMed Link: 26900293

Variant Present in the following documents:

• Main text

View BVdb publication page

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LIN28 cooperates with WNT signaling to drive invasive intestinal and colorectal adenocarcinoma in mice and humans.

Genes & Development

Tu, Ho-Chou HC; Schwitalla, Sarah S; Qian, Zhirong Z; LaPier, Grace S GS; Yermalovich, Alena A; Ku, Yuan-Chieh YC; Chen, Shann-Ching SC; Viswanathan, Srinivas R SR; Zhu, Hao H; Nishihara, Reiko R; Inamura, Kentaro K; Kim, Sun A SA; Morikawa, Teppei T; Mima, Kosuke K; Sukawa, Yasutaka Y; Yang, Juhong J; Meredith, Gavin G; Fuchs, Charles S CS; Ogino, Shuji S; Daley, George Q GQ

Publication Date: 2015-05-15

Variant appearance in text: APC: 95A>G

PubMed Link: 25956904

Variant Present in the following documents:

• 1074.pdf

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