Publications:

---

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: S1685L

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Functional RECAP (REpair CAPacity) assay identifies homologous recombination deficiency undetected by DNA-based BRCAness tests.

Oncogene

Meijer, Titia G TG; Nguyen, Luan L; Van Hoeck, Arne A; Sieuwerts, Anieta M AM; Verkaik, Nicole S NS; Ladan, Marjolijn M MM; Ruigrok-Ritstier, Kirsten K; van Deurzen, Carolien H M CHM; van de Werken, Harmen J G HJG; Lips, Esther H EH; Linn, Sabine C SC; Memari, Yasin Y; Davies, Helen H; Nik-Zainal, Serena S; Kanaar, Roland R; Martens, John W M JWM; Cuppen, Edwin E; Jager, Agnes A; van Gent, Dik C DC

Publication Date: 2022-06

Variant appearance in text: BRCA2: 5054C>T; Ser1685Leu

PubMed Link: 35662281

Variant Present in the following documents:

• 41388_2022_2363_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: BRCA2: S1685L

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

---

Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: BRCA2: 5054C>T; S1685L

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

---

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Bmc Cancer

Sun, Peng P; Li, Yue Y; Chao, Xue X; Li, Jibin J; Luo, Rongzhen R; Li, Mei M; He, Jiehua J

Publication Date: 2020-10-14

Variant appearance in text: BRCA2: S1685L

PubMed Link: 33054725

Variant Present in the following documents:

• 12885_2020_7481_MOESM3_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: 5054C>T; Ser1685Leu

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: BRCA2: 5054C>T; S1685L

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.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: BRCA2: S1685L

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: BRCA2: S1685L

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2.

Cancer Research And Treatment

Eoh, Kyung Jin KJ; Kim, Ji Eun JE; Park, Hyung Seok HS; Lee, Seung-Tae ST; Park, Ji Soo JS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Jae Hoon JH; Kim, Young Tae YT; Nam, Eun Ji EJ

Publication Date: 2018-07

Variant appearance in text: BRCA2: 5054C>T

PubMed Link: 29020732

Variant Present in the following documents:

• crt-2017-220-suppl2.xlsx, sheet 1

View BVdb publication page

---