Publications:

---

Assessing the pathogenicity of BRCA1/2 variants of unknown significance: Relevance and challenges for breast cancer precision medicine.

Frontiers In Oncology

De Paolis, Elisa E; Paris, Ida I; Tilocca, Bruno B; Roncada, Paola P; Foca, Laura L; Tiberi, Giordana G; D'Angelo, Tatiana T; Pavese, Francesco F; Muratore, Margherita M; Carbognin, Luisa L; Garganese, Giorgia G; Masetti, Riccardo R; Di Leone, Alba A; Fabi, Alessandra A; Scambia, Giovanni G; Urbani, Andrea A; Generali, Daniele D; Minucci, Angelo A; Santonocito, Concetta C

Publication Date: 2022

Variant appearance in text: BRCA1: His1686Gln

PubMed Link: 36741700

Variant Present in the following documents:

• Main text
• fonc-12-1053035.pdf

View BVdb publication page

---

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: rs397509218

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2
• Table3.xlsx, sheet 1

View BVdb publication page

---

In Silico and Structure-Based Assessment of Similar Variants Discovered in Tandem Repeats of BRCT Domains of BRCA1 and BARD1 To Characterize the Folding Pattern.

Acs Omega

Barua, Siddhartha A SA; Goswami, Nabajyoti N; Mishra, Neha N; Sawant, Ulka U UU; Varma, Ashok K AK

Publication Date: 2022-12-13

Variant appearance in text: BRCA1: H1686Q

PubMed Link: 36530327

Variant Present in the following documents:

• ao2c04782.pdf

View BVdb publication page

---

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer

Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM

Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 5058T>A; His1686Gln; rs397509218

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 2

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: BRCA1: H1686Q

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: BRCA1: 5058T>A; His1686Gln

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

---

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: BRCA1: H1686Q

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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: rs397509218

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

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: BRCA1: 5058T>A; His1686Gln

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: BRCA1: H1686Q

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

---

Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.

Peerj

Nicolussi, Arianna A; Belardinilli, Francesca F; Mahdavian, Yasaman Y; Colicchia, Valeria V; D'Inzeo, Sonia S; Petroni, Marialaura M; Zani, Massimo M; Ferraro, Sergio S; Valentini, Virginia V; Ottini, Laura L; Giannini, Giuseppe G; Capalbo, Carlo C; Coppa, Anna A

Publication Date: 2019

Variant appearance in text: N/A

PubMed Link: 31065452

Variant Present in the following documents:

View BVdb publication page

---

Investigating of variations in BRCA1 gene in Iranian families with breast cancer.

Medical Journal Of The Islamic Republic Of Iran

Mehrgou, Amir A; Akouchekian, Mansoureh M; Hemati, Simin S

Publication Date: 2018

Variant appearance in text: BRCA1: 5058T>A; H1686Q

PubMed Link: 30788324

Variant Present in the following documents:

• Main text
• mjiri-32-87.pdf

View BVdb publication page

---

Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5058T>A; H1686Q

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

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: BRCA1: H1686Q

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers.

Oncotarget

Rizzolo, Piera P; Silvestri, Valentina V; Valentini, Virginia V; Zelli, Veronica V; Zanna, Ines I; Masala, Giovanna G; Bianchi, Simonetta S; Palli, Domenico D; Ottini, Laura L

Publication Date: 2018-04-13

Variant appearance in text: BRCA1: H1686Q

PubMed Link: 29731982

Variant Present in the following documents:

• oncotarget-09-19783.pdf

View BVdb publication page

---

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.

Cancer Medicine

Coppa, Anna A; Nicolussi, Arianna A; D'Inzeo, Sonia S; Capalbo, Carlo C; Belardinilli, Francesca F; Colicchia, Valeria V; Petroni, Marialaura M; Zani, Massimo M; Ferraro, Sergio S; Rinaldi, Christian C; Buffone, Amelia A; Bartolazzi, Armando A; Screpanti, Isabella I; Ottini, Laura L; Giannini, Giuseppe G

Publication Date: 2018-01

Variant appearance in text: BRCA1: H1686Q

PubMed Link: 29271107

Variant Present in the following documents:

• CAM4-7-46.pdf

View BVdb publication page

---

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.

Familial Cancer

Steffensen, Ane Y AY; Jønson, Lars L; Ejlertsen, Bent B; Gerdes, Anne-Marie AM; Nielsen, Finn C FC; Hansen, Thomas V O TV

Publication Date: 2010-09

Variant appearance in text: BRCA1: H1686Q

PubMed Link: 20455026

Variant Present in the following documents:

• 10689_2010_Article_9345.pdf

View BVdb publication page

---