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: 2386G>T; G796*; rs180177112

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PALB2: 2386G>T; Gly796Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 2386G>T; Gly796Ter; rs180177112

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.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: 2386G>T; Gly796Ter; rs180177112

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.

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

Woodward, Emma R ER; van Veen, Elke M EM; Forde, Claire C; Harkness, Elaine F EF; Byers, Helen J HJ; Ellingford, Jamie M JM; Burghel, George J GJ; Schlech, Helene H; Bowers, Naomi L NL; Wallace, Andrew J AJ; Howell, Sacha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam J MJ; Gareth Evans, D D

Publication Date: 2021-10

Variant appearance in text: PALB2: 2386G>T

PubMed Link: 34113003

Variant Present in the following documents:

• Main text
• 41436_2021_Article_1234.pdf

View BVdb publication page

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Inherited predisposition to breast cancer in the Carolina Breast Cancer Study.

Npj Breast Cancer

Walsh, Tom T; Gulsuner, Suleyman S; Lee, Ming K MK; Troester, Melissa A MA; Olshan, Andrew F AF; Earp, H Shelton HS; Perou, Charles M CM; King, Mary-Claire MC

Publication Date: 2021-01-21

Variant appearance in text: PALB2: 2386G>T; G796X

PubMed Link: 33479248

Variant Present in the following documents:

• 41523_2020_214_MOESM1_ESM.pdf

View BVdb publication page

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: PALB2: G796*

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33

View BVdb publication page

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Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: PALB2: 2386G>T

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

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: 2386G>T; Gly796Ter; rs180177112

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: 2386G>T; Gly796Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: PALB2: 2386G>T; G796*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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PALB2 mutations in breast cancer patients from a multi-ethnic region in northwest China.

European Journal Of Medical Research

Li, Yong Tao YT; Jiang, Wei Hua WH; Wang, Xiao Wen XW; Zhang, Ming Shuai MS; Zhang, Cheng Guang CG; Yi, Li Na LN; WuwaliKhan, Fulati F; Ayoufu, Aisikaer A; Ou, Jiang Hua JH

Publication Date: 2015-10-21

Variant appearance in text: PALB2: 2386G>T; G796X

PubMed Link: 26489409

Variant Present in the following documents:

• Main text

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: Gly796*; rs180177112

PubMed Link: 26283626

Variant Present in the following documents:

• Main text
• 13058_2015_Article_627.pdf

View BVdb publication page

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Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

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

LaDuca, Holly H; Stuenkel, A J AJ; Dolinsky, Jill S JS; Keiles, Steven S; Tandy, Stephany S; Pesaran, Tina T; Chen, Elaine E; Gau, Chia-Ling CL; Palmaer, Erika E; Shoaepour, Kamelia K; Shah, Divya D; Speare, Virginia V; Gandomi, Stephanie S; Chao, Elizabeth E

Publication Date: 2014-11

Variant appearance in text: PALB2: G796X

PubMed Link: 24763289

Variant Present in the following documents:

• gim201440x3.xls, sheet 1

View BVdb publication page

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Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

European Journal Of Human Genetics : Ejhg

Castéra, Laurent L; Krieger, Sophie S; Rousselin, Antoine A; Legros, Angélina A; Baumann, Jean-Jacques JJ; Bruet, Olivia O; Brault, Baptiste B; Fouillet, Robin R; Goardon, Nicolas N; Letac, Olivier O; Baert-Desurmont, Stéphanie S; Tinat, Julie J; Bera, Odile O; Dugast, Catherine C; Berthet, Pascaline P; Polycarpe, Florence F; Layet, Valérie V; Hardouin, Agnes A; Frébourg, Thierry T; Vaur, Dominique D

Publication Date: 2014-11

Variant appearance in text: PALB2: 2386G>T; Gly796*

PubMed Link: 24549055

Variant Present in the following documents:

• Main text

View BVdb publication page

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PALB2 and breast cancer: ready for clinical translation!

The Application Of Clinical Genetics

Southey, Melissa C MC; Teo, Zhi L ZL; Winship, Ingrid I

Publication Date: 2013

Variant appearance in text: PALB2: Gly796*

PubMed Link: 23935381

Variant Present in the following documents:

• Main text
• tacg-6-043.pdf

View BVdb publication page

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Novel germline PALB2 truncating mutations in African American breast cancer patients.

Cancer

Zheng, Yonglan Y; Zhang, Jing J; Niu, Qun Q; Huo, Dezheng D; Olopade, Olufunmilayo I OI

Publication Date: 2012-03-01

Variant appearance in text: PALB2: 2386G>T

PubMed Link: 21932393

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.

Cancer Research

Casadei, Silvia S; Norquist, Barbara M BM; Walsh, Tom T; Stray, Sunday S; Mandell, Jessica B JB; Lee, Ming K MK; Stamatoyannopoulos, John A JA; King, Mary-Claire MC

Publication Date: 2011-03-15

Variant appearance in text: PALB2: 2386G>T; G796X

PubMed Link: 21285249

Variant Present in the following documents:

• Main text

View BVdb publication page

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PALB2 mutations in German and Russian patients with bilateral breast cancer.

Breast Cancer Research And Treatment

Bogdanova, Natalia N; Sokolenko, Anna P AP; Iyevleva, Aglaya G AG; Abysheva, Svetlana N SN; Blaut, Magda M; Bremer, Michael M; Christiansen, Hans H; Rave-Fränk, Margret M; Dörk, Thilo T; Imyanitov, Evgeny N EN

Publication Date: 2011-04

Variant appearance in text: PALB2: G796X

PubMed Link: 21165770

Variant Present in the following documents:

• Main text
• 10549_2010_Article_1290.pdf

View BVdb publication page

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PALB2/FANCN: recombining cancer and Fanconi anemia.

Cancer Research

Tischkowitz, Marc M; Xia, Bing B

Publication Date: 2010-10-01

Variant appearance in text: PALB2: G796X

PubMed Link: 20858716

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women.

Breast Cancer Research : Bcr

Foulkes, William D WD; Ghadirian, Parviz P; Akbari, Mohammed Reza MR; Hamel, Nancy N; Giroux, Sylvie S; Sabbaghian, Nelly N; Darnel, Andrew A; Royer, Robert R; Poll, Aletta A; Fafard, Eve E; Robidoux, André A; Martin, Ginette G; Bismar, Tarek A TA; Tischkowitz, Marc M; Rousseau, Francois F; Narod, Steven A SA

Publication Date: 2007

Variant appearance in text: PALB2: G796X

PubMed Link: 18053174

Variant Present in the following documents:

• Main text
• bcr1828.pdf

View BVdb publication page

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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene.

Nature Genetics

Rahman, Nazneen N; Seal, Sheila S; Thompson, Deborah D; Kelly, Patrick P; Renwick, Anthony A; Elliott, Anna A; Reid, Sarah S; Spanova, Katarina K; Barfoot, Rita R; Chagtai, Tasnim T; Jayatilake, Hiran H; McGuffog, Lesley L; Hanks, Sandra S; Evans, D Gareth DG; Eccles, Diana D; , ; Easton, Douglas F DF; Stratton, Michael R MR

Publication Date: 2007-02

Variant appearance in text: PALB2: G796X

PubMed Link: 17200668

Variant Present in the following documents:

• Main text

View BVdb publication page

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