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: 37G>A; E13K; rs373287455

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Integrative characterization of intraductal tubulopapillary neoplasm (ITPN) of the pancreas and associated invasive adenocarcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Mafficini, Andrea A; Simbolo, Michele M; Shibata, Tatsuhiro T; Hong, Seung-Mo SM; Pea, Antonio A; Brosens, Lodewijk A LA; Cheng, Liang L; Antonello, Davide D; Sciammarella, Concetta C; Cantù, Cinzia C; Mattiolo, Paola P; Taormina, Sergio V SV; Malleo, Giuseppe G; Marchegiani, Giovanni G; Sereni, Elisabetta E; Corbo, Vincenzo V; Paolino, Gaetano G; Ciaparrone, Chiara C; Hiraoka, Nobuyoshi N; Pallaoro, Daniel D; Jansen, Casper C; Milella, Michele M; Salvia, Roberto R; Lawlor, Rita T RT; Adsay, Volkan V; Scarpa, Aldo A; Luchini, Claudio C

Publication Date: 2022-12

Variant appearance in text: PALB2: E13K

PubMed Link: 36056133

Variant Present in the following documents:

• 41379_2022_Article_1143.pdf

View BVdb publication page

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Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Genes

Paduano, Francesco F; Colao, Emma E; Fabiani, Fernanda F; Rocca, Valentina V; Dinatolo, Francesca F; Dattola, Adele A; D'Antona, Lucia L; Amato, Rosario R; Trapasso, Francesco F; Baudi, Francesco F; Perrotti, Nicola N; Iuliano, Rodolfo R

Publication Date: 2022-07-21

Variant appearance in text: PALB2: 37G>A; Glu13Lys; rs373287455

PubMed Link: 35886069

Variant Present in the following documents:

• Main text
• genes-13-01286.pdf

View BVdb publication page

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Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications

Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS

Publication Date: 2022-01-26

Variant appearance in text: PALB2: 37G>A; Glu13Lys; rs373287455

PubMed Link: 35082299

Variant Present in the following documents:

• 41467_2022_27987_MOESM20_ESM.xlsx, sheet 1

View BVdb publication page

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Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications

Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS

Publication Date: 2022-01-26

Variant appearance in text: PALB2: 37G>A; Glu13Lys; rs373287455

PubMed Link: 35082299

Variant Present in the following documents:

• 41467_2022_27987_MOESM20_ESM.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: 37G>A; Glu13Lys; rs373287455

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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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: 37G>A; E13K; rs373287455

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: 37G>A; Glu13Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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