Publications:

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Copy number alteration features in pan-cancer homologous recombination deficiency prediction and biology.

Communications Biology

Yao, Huizi H; Li, Huimin H; Wang, Jinyu J; Wu, Tao T; Ning, Wei W; Diao, Kaixuan K; Wu, Chenxu C; Wang, Guangshuai G; Tao, Ziyu Z; Zhao, Xiangyu X; Chen, Jing J; Sun, Xiaoqin X; Liu, Xue-Song XS

Publication Date: 2023-05-16

Variant appearance in text: BRCA2: Lys964Asn

PubMed Link: 37193789

Variant Present in the following documents:

• 42003_2023_4901_MOESM1_ESM.pdf
• 42003_2023_Article_4901.pdf

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: BRCA2: 2892A>T; K964N; rs587778119

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: rs587778119

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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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: BRCA2: 2892A>T; Lys964Asn

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s002.xlsx, sheet 2

View BVdb publication page

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Mitomycin C in Homologous Recombination Deficient Metastatic Pancreatic Cancer after Disease Progression on Platinum-Based Chemotherapy and Olaparib.

Biomedicines

Botrus, Gehan G; Roe, Denise D; Jameson, Gayle S GS; Junior, Pedro Luiz Serrano Uson PLSU; Korn, Ronald Lee RL; Caldwell, Lana L; Bargenquast, Taylor T; Miller, Max M; Borazanci, Erkut Hasan EH

Publication Date: 2022-10-26

Variant appearance in text: BRCA2: K964N

PubMed Link: 36359225

Variant Present in the following documents:

• Main text
• biomedicines-10-02705.pdf

View BVdb publication page

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Breast (Edinburgh, Scotland)

Bisgin, Atil A; Sag, Sebnem Ozemri SO; Dogan, Muhammet E ME; Yildirim, Mahmut S MS; Gumus, Aydeniz Aydin AA; Akkus, Nejmiye N; Balasar, Ozgur O; Durmaz, Ceren D CD; Eroz, Recep R; Altiner, Sule S; Alemdar, Adem A; Aliyeva, Lamia L; Boga, Ibrahim I; Cam, Fethi S FS; Dogan, Berkcan B; Esbah, Onur O; Hanta, Abdullah A; Mujde, Cem C; Ornek, Cemre C; Ozer, Sinem S; Rencuzogullari, Cagla C; Sonmezler, Ozge O; Bozdogan, Sevcan Tug ST; Dundar, Munis M; Temel, Sehime G SG

Publication Date: 2022-10

Variant appearance in text: BRCA2: 2892A>T; K964N

PubMed Link: 35753294

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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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: K964N

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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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: 2892A>T; K964N; rs587778119

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: BRCA2: 2892A>T; Lys964Asn; rs587778119

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Role of next generation sequencing-based liquid biopsy in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors: impact of STK11, KRAS and TP53 mutations and co-mutations on outcome.

Translational Lung Cancer Research

Pavan, Alberto A; Bragadin, Andrea Boscolo AB; Calvetti, Lorenzo L; Ferro, Alessandra A; Zulato, Elisabetta E; Attili, Ilaria I; Nardo, Giorgia G; Dal Maso, Alessandro A; Frega, Stefano S; Menin, Andrea Giovanni AG; Fassan, Matteo M; Calabrese, Fiorella F; Pasello, Giulia G; Guarneri, Valentina V; Aprile, Giuseppe G; Conte, PierFranco P; Rosell, Rafael R; Indraccolo, Stefano S; Bonanno, Laura L

Publication Date: 2021-01

Variant appearance in text: BRCA2: K964N

PubMed Link: 33569305

Variant Present in the following documents:

• tlcr-10-01-202-supplementary.pdf

View BVdb publication page

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Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening.

Frontiers In Oncology

Kadri, Mohammed Shaad N MSN; Patel, Komal M KM; Bhargava, Poonam A PA; Shah, Franky D FD; Badgujar, Nutan V NV; Tarapara, Bhoomi V BV; Patel, Prabhudas S PS; Shaikh, Mohammed Inayatullah MI; Shah, Krati K; Patel, Apurva A; Pandya, Shashank S; Vora, Hemangini H; Joshi, Chaitanya G CG; Joshi, Madhvi N MN

Publication Date: 2020

Variant appearance in text: BRCA2: 2892A>T

PubMed Link: 33552952

Variant Present in the following documents:

• Main text
• fonc-10-568786.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: 2892A>T; Lys964Asn

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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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

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

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA2: 2892A>T; K964N; rs587778119

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An Analysis of Patients with DNA Repair Pathway Mutations Treated with a PARP Inhibitor.

The Oncologist

Borazanci, Erkut E; Korn, Ronald R; Liang, Winnie S WS; Guarnieri, Carol C; Haag, Susan S; Snyder, Courtney C; Hendrickson, Kristin K; Caldwell, Lana L; Von Hoff, Dan D; Jameson, Gayle G

Publication Date: 2020-01

Variant appearance in text: BRCA2: 2892A>T

PubMed Link: 31391296

Variant Present in the following documents:

• Main text

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: K964N

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA2: 2892A>T; Lys964Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: BRCA2: K964N

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.

Hereditary Cancer In Clinical Practice

Soumittra, Nagasamy N; Meenakumari, Balaiah B; Parija, Tithi T; Sridevi, Veluswami V; Nancy, Karunakaran N KN; Swaminathan, Rajaraman R; Rajalekshmy, Kamalalayam R KR; Majhi, Urmila U; Rajkumar, Thangarajan T

Publication Date: 2009-08-06

Variant appearance in text: BRCA2: 2892A>T; K964N

PubMed Link: 19656415

Variant Present in the following documents:

• Main text
• 1897-4287-7-13.pdf

View BVdb publication page

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