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: 2559C>T; Gly853=; rs180177115

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Npj Precision Oncology

Landrith, Tyler T; Li, Bing B; Cass, Ashley A AA; Conner, Blair R BR; LaDuca, Holly H; McKenna, Danielle B DB; Maxwell, Kara N KN; Domchek, Susan S; Morman, Nichole A NA; Heinlen, Christopher C; Wham, Deborah D; Koptiuch, Cathryn C; Vagher, Jennie J; Rivera, Ragene R; Bunnell, Ann A; Patel, Gayle G; Geurts, Jennifer L JL; Depas, Morgan M MM; Gaonkar, Shraddha S; Pirzadeh-Miller, Sara S; Krukenberg, Rebekah R; Seidel, Meredith M; Pilarski, Robert R; Farmer, Meagan M; Pyrtel, Khateriaa K; Milliron, Kara K; Lee, John J; Hoodfar, Elizabeth E; Nathan, Deepika D; Ganzak, Amanda C AC; Wu, Sitao S; Vuong, Huy H; Xu, Dong D; Arulmoli, Aarani A; Parra, Melissa M; Hoang, Lily L; Molparia, Bhuvan B; Fennessy, Michele M; Fox, Susanne S; Charpentier, Sinead S; Burdette, Julia J; Pesaran, Tina T; Profato, Jessica J; Smith, Brandon B; Haynes, Ginger G; Dalton, Emily E; Crandall, Joy Rae-Radecki JR; Baxter, Ruth R; Lu, Hsiao-Mei HM; Tippin-Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E; Karam, Rachid R

Publication Date: 2020

Variant appearance in text: PALB2: 2559C>T

PubMed Link: 32133419

Variant Present in the following documents:

• 41698_2020_109_MOESM1_ESM.pdf
• 41698_2020_Article_109.pdf

View BVdb publication page

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Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Jama Network Open

Karam, Rachid R; Conner, Blair B; LaDuca, Holly H; McGoldrick, Kelly K; Krempely, Kate K; Richardson, Marcy E ME; Zimmermann, Heather H; Gutierrez, Stephanie S; Reineke, Patrick P; Hoang, Lily L; Allen, Kyle K; Yussuf, Amal A; Farber-Katz, Suzette S; Rana, Huma Q HQ; Culver, Samantha S; Lee, John J; Nashed, Sarah S; Toppmeyer, Deborah D; Collins, Debra D; Haynes, Ginger G; Pesaran, Tina T; Dolinsky, Jill S JS; Tippin Davis, Brigette B; Elliott, Aaron A; Chao, Elizabeth E

Publication Date: 2019-10-02

Variant appearance in text: PALB2: 2559C>T; G853G

PubMed Link: 31642931

Variant Present in the following documents:

• jamanetwopen-2-e1913900-s001.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PALB2: G853G; rs180177115

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.

Breast Cancer Research And Treatment

Yang, Ciyu C; Ceyhan-Birsoy, Ozge O; Mandelker, Diana D; Jairam, Sowmya S; Catchings, Amanda A; O'Reilly, Eileen M EM; Walsh, Michael F MF; Zhang, Liying L

Publication Date: 2019-01

Variant appearance in text: PALB2: 2559C>T; Gly853=

PubMed Link: 30255452

Variant Present in the following documents:

• Main text

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: 2559C>T; Gly853=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: PALB2: 2559C>T

PubMed Link: 26681312

Variant Present in the following documents:

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: 2559C>T

PubMed Link: 23935381

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: 2559C>T

PubMed Link: 21285249

Variant Present in the following documents:

• Main text

View BVdb publication page

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