Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: PALB2: 899C>T; T300I; rs528541334

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: PALB2: 899C>T; T300I; rs528541334

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: 899C>T; T300I

PubMed Link: 33195396

Variant Present in the following documents:

• fmolb-07-00169.pdf

View BVdb publication page

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Functional characterization of 84 PALB2 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ

Publication Date: 2020-03

Variant appearance in text: PALB2: 899C>T; T300I

PubMed Link: 31636395

Variant Present in the following documents:

• Main text
• 41436_2019_Article_682.pdf

View BVdb publication page

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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.

Cancer Research And Treatment

Rashid, Muhammad Usman MU; Khan, Faiz Ali FA; Muhammad, Noor N; Loya, Asif A; Hamann, Ute U

Publication Date: 2019-07

Variant appearance in text: PALB2: 899C>T

PubMed Link: 30309218

Variant Present in the following documents:

• Main text

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: PALB2: 899C>T; Thr300Ile; rs528541334

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: PALB2: 899C>T; Thr300Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Breast Cancer Research : Bcr

Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG

Publication Date: 2015-08-19

Variant appearance in text: PALB2: Thr300Ile

PubMed Link: 26283626

Variant Present in the following documents:

• Main text
• 13058_2015_Article_627.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: PALB2: T300I

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.

Plos One

Phuah, Sze Yee SY; Lee, Sheau Yee SY; Kang, Peter P; Kang, In Nee IN; Yoon, Sook-Yee SY; Thong, Meow Keong MK; Hartman, Mikael M; Sng, Jen-Hwei JH; Yip, Cheng Har CH; Taib, Nur Aishah Mohd NA; Teo, Soo-Hwang SH

Publication Date: 2013

Variant appearance in text: PALB2: 899C>T; T300I

PubMed Link: 23977390

Variant Present in the following documents:

• Main text
• pone.0073638.pdf

View BVdb publication page

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Germline mutations in PALB2 in African-American breast cancer cases.

Breast Cancer Research And Treatment

Ding, Yuan Chun YC; Steele, Linda L; Chu, Li-Hao LH; Kelley, Karen K; Davis, Helen H; John, Esther M EM; Tomlinson, Gail E GE; Neuhausen, Susan L SL

Publication Date: 2011-02

Variant appearance in text: PALB2: T300I

PubMed Link: 21113654

Variant Present in the following documents:

• Main text

View BVdb publication page

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