Publications:

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: PALB2: 2834+2T>C

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: PALB2: 2834+2T>C

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS3.xlsx, sheet 1
• LSA-2021-01319_TableS1.xlsx, sheet 1

View BVdb publication page

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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.

The Journal Of Pathology

Valenzuela-Palomo, Alberto A; Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Lorca, Víctor V; Fraile-Bethencourt, Eugenia E; Esteban-Sánchez, Ada A; Gómez-Barrero, Susana S; Carvalho, Sara S; Allen, Jamie J; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Dorling, Leila L; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike Pg MP; de la Hoya, Miguel M; Velasco, Eladio A EA

Publication Date: 2022-03

Variant appearance in text: PALB2: 2834+2T>C

PubMed Link: 34846068

Variant Present in the following documents:

• Main text
• PATH-256-321.pdf

View BVdb publication page

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Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.

Cancer Science

Ryu, Jin-Sun JS; Lee, Hye-Young HY; Cho, Eun Hae EH; Yoon, Kyong-Ah KA; Kim, Min-Kyeong MK; Joo, Jungnam J; Lee, Eun-Sook ES; Kang, Han-Sung HS; Lee, Seeyoun S; Lee, Dong Ock DO; Lim, Myong Cheol MC; Kong, Sun-Young SY

Publication Date: 2020-10

Variant appearance in text: PALB2: 2834+2T>C

PubMed Link: 32761968

Variant Present in the following documents:

• Main text
• CAS-111-3912.pdf

View BVdb publication page

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Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.

Cancer

Zhou, Jiaojiao J; Wang, Honglian H; Fu, Fangmeng F; Li, Zhanwen Z; Feng, Qingjian Q; Wu, Weizhu W; Liu, Yun Y; Wang, Chuan C; Chen, Yiding Y

Publication Date: 2020-07-15

Variant appearance in text: PALB2: 2834+2T>C

PubMed Link: 32339256

Variant Present in the following documents:

View BVdb publication page

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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Haematologica

Mori, Minako M; Hira, Asuka A; Yoshida, Kenichi K; Muramatsu, Hideki H; Okuno, Yusuke Y; Shiraishi, Yuichi Y; Anmae, Michiko M; Yasuda, Jun J; Tadaka, Shu S; Kinoshita, Kengo K; Osumi, Tomoo T; Noguchi, Yasushi Y; Adachi, Souichi S; Kobayashi, Ryoji R; Kawabata, Hiroshi H; Imai, Kohsuke K; Morio, Tomohiro T; Tamura, Kazuo K; Takaori-Kondo, Akifumi A; Yamamoto, Masayuki M; Miyano, Satoru S; Kojima, Seiji S; Ito, Etsuro E; Ogawa, Seishi S; Matsuo, Keitaro K; Yabe, Hiromasa H; Yabe, Miharu M; Takata, Minoru M

Publication Date: 2019-10

Variant appearance in text: PALB2: 2834+2T>C

PubMed Link: 30792206

Variant Present in the following documents:

• Main text
• 1041962.pdf

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: PALB2: 2834+2T>C

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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