Publications:

---

Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs773591333

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

---

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: L1604F

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine

Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A

Publication Date: 2021-11-09

Variant appearance in text: BRCA2: 4810C>T

PubMed Link: 34749799

Variant Present in the following documents:

• Main text
• 13073_2021_Article_976.pdf

View BVdb publication page

---

Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA2: L1604F

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 4810C>T; Leu1604Phe

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

Scientific Reports

De Talhouet, Solene S; Peron, Julien J; Vuilleumier, Aurelie A; Friedlaender, Alex A; Viassolo, Valeria V; Ayme, Aurélie A; Bodmer, Alexandre A; Treilleux, Isabelle I; Lang, Noemie N; Tille, Jean- Christophe JC; Chappuis, Pierre O PO; Buisson, Adrien A; Giraud, Sophie S; Lasset, Christine C; Bonadona, Valerie V; Trédan, Olivier O; Labidi-Galy, S Intidhar SI

Publication Date: 2020-04-27

Variant appearance in text: BRCA2: 4810C>T

PubMed Link: 32341426

Variant Present in the following documents:

• 41598_2020_63759_MOESM1_ESM.pdf

View BVdb publication page

---

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: L1604F

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice

Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,

Publication Date: 2017

Variant appearance in text: BRCA2: 4810C>T

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

View BVdb publication page

---

Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software.

Biomed Research International

Poulet, Axel A; Privat, Maud M; Ponelle, Flora F; Viala, Sandrine S; Decousus, Stephanie S; Perin, Axel A; Lafarge, Laurence L; Ollier, Marie M; El Saghir, Nagi S NS; Uhrhammer, Nancy N; Bignon, Yves-Jean YJ; Bidet, Yannick Y

Publication Date: 2016

Variant appearance in text: BRCA2: 4810C>T

PubMed Link: 27656653

Variant Present in the following documents:

• BMRI2016-5623089.pdf

View BVdb publication page

---

Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.

Cancer Medicine

Koczkowska, Magdalena M; Zuk, Monika M; Gorczynski, Adam A; Ratajska, Magdalena M; Lewandowska, Marzena M; Biernat, Wojciech W; Limon, Janusz J; Wasag, Bartosz B

Publication Date: 2016-07

Variant appearance in text: BRCA2: 4810C>T

PubMed Link: 27167707

Variant Present in the following documents:

• CAM4-5-1640.pdf
• CAM4-5-1640-s001.pdf

View BVdb publication page

---