PALB2 c.2461A>T ;(p.N821Y)

Variant ID: 16-23641014-T-A

NM_024675.3(PALB2):c.2461A>T;(p.N821Y)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.

Cancers
Goidescu, Iulian Gabriel IG; Nemeti, Georgiana G; Surcel, Mihai M; Caracostea, Gabriela G; Florian, Andreea Roxana AR; Cruciat, Gheorghe G; Staicu, Adelina A; Muresan, Daniel D; Goidescu, Cerasela C; Pintican, Roxana R; Eniu, Dan Tudor DT
Publication Date: 2023-03-22

Variant appearance in text: PALB2: 2461A>T
PubMed Link: 36980780
Variant Present in the following documents:
  • Main text
  • cancers-15-01895.pdf
View BVdb publication page



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: 2461A>T; Asn821Tyr; rs958566673
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: PALB2: 2461A>T; N821Y
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



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: 2461A>T; N821Y
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer
Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G
Publication Date: 2019-06-03

Variant appearance in text: PALB2: 2461A>T; Asn821Tyr; rs958566673
PubMed Link: 31159747
Variant Present in the following documents:
  • 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.

Clujul Medical (1957)
Goidescu, Iulian Gabriel IG; Caracostea, Gabriela G; Eniu, Dan Tudor DT; Stamatian, Florin Vasile FV
Publication Date: 2018

Variant appearance in text: PALB2: 2461A>T
PubMed Link: 29785153
Variant Present in the following documents:
  • Main text
  • cm-91-157.pdf
View BVdb publication page



The genetic landscape of dural marginal zone lymphomas.

Oncotarget
Ganapathi, Karthik A KA; Jobanputra, Vaidehi V; Iwamoto, Fabio F; Jain, Preti P; Chen, Jinli J; Cascione, Luciano L; Nahum, Odelia O; Levy, Brynn B; Xie, Yi Y; Khattar, Pallavi P; Hoehn, Daniela D; Bertoni, Francesco F; Murty, Vundavalli V VV; Pittaluga, Stefania S; Jaffe, Elaine S ES; Alobeid, Bachir B; Mansukhani, Mahesh M MM; Bhagat, Govind G
Publication Date: 2016-07-12

Variant appearance in text: PALB2: 2461A>T; N821Y
PubMed Link: 27248180
Variant Present in the following documents:
  • oncotarget-07-43052-s003.xlsx, sheet 1
View BVdb publication page