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: K178R

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_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: BRCA2: K178R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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: 533A>G; Lys178Arg

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_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: K178R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

---

Candidate gene association study of esophageal squamous cell carcinoma in a high-risk region in Iran.

Cancer Research

Akbari, Mohammad R MR; Malekzadeh, Reza R; Shakeri, Ramin R; Nasrollahzadeh, Dariush D; Foumani, Maryam M; Sun, Yulong Y; Pourshams, Akram A; Sadjadi, Alireza A; Jafari, Elham E; Sotoudeh, Masoud M; Kamangar, Farin F; Boffetta, Paolo P; Dawsey, Sanford M SM; Ghadirian, Parviz P; Narod, Steven A SA

Publication Date: 2009-10-15

Variant appearance in text: BRCA2: Lys178Arg

PubMed Link: 19826048

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

Blood

Hill, Deirdre A DA; Wang, Sophia S SS; Cerhan, James R JR; Davis, Scott S; Cozen, Wendy W; Severson, Richard K RK; Hartge, Patricia P; Wacholder, Sholom S; Yeager, Meredith M; Chanock, Stephen J SJ; Rothman, Nathaniel N

Publication Date: 2006-11-01

Variant appearance in text: BRCA2: K178R

PubMed Link: 16857995

Variant Present in the following documents:

• Main text

View BVdb publication page

---