Publications:

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Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports

Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB

Publication Date: 2022-06-21

Variant appearance in text: BRCA2: G998D

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Evaluation of a Four-Gene Panel for Hereditary Cancer Risk Assessment.

Genes

Secondino, Angela A; Starnone, Flavio F; Veneruso, Iolanda I; Di Tella, Maria Antonietta MA; Conato, Serena S; De Angelis, Carmine C; De Placido, Sabino S; D'Argenio, Valeria V

Publication Date: 2022-04-13

Variant appearance in text: BRCA2: 2993G>A; Gly998Glu

PubMed Link: 35456488

Variant Present in the following documents:

• genes-13-00682.pdf

View BVdb publication page

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 2993G>A; Gly998Asp

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Nucleic Acids Research

Rodrigue, Amélie A; Margaillan, Guillaume G; Torres Gomes, Thiago T; Coulombe, Yan Y; Montalban, Gemma G; da Costa E Silva Carvalho, Simone S; Milano, Larissa L; Ducy, Mandy M; De-Gregoriis, Giuliana G; Dellaire, Graham G; Araújo da Silva, Wilson W; Monteiro, Alvaro N AN; Carvalho, Marcelo A MA; Simard, Jacques J; Masson, Jean-Yves JY

Publication Date: 2019-11-18

Variant appearance in text: BRCA2: 2993G>A; G998E

PubMed Link: 31586400

Variant Present in the following documents:

• Main text
• gkz780.pdf

View BVdb publication page

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

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

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: G998D

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

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PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Piatkowska, Magdalena M; Czarny, Katarzyna K; Paczkowska, Katarzyna K; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2017-03-09

Variant appearance in text: BRCA2: 2993G>A

PubMed Link: 28279176

Variant Present in the following documents:

• 12920_2017_Article_251.pdf

View BVdb publication page

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Assessment of PALB2 as a candidate melanoma susceptibility gene.

Plos One

Aoude, Lauren G LG; Xu, Mai M; Zhao, Zhen Zhen ZZ; Kovacs, Michael M; Palmer, Jane M JM; Johansson, Peter P; Symmons, Judith J; Trent, Jeffrey M JM; Martin, Nicholas G NG; Montgomery, Grant W GW; Brown, Kevin M KM; Hayward, Nicholas K NK

Publication Date: 2014

Variant appearance in text: BRCA2: 2993G>A; G998E

PubMed Link: 24949998

Variant Present in the following documents:

• Main text

View BVdb publication page

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