Publications:

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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: rs1060502324

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

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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: BRCA1: A870G

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: BRCA1: 2609C>G; Ala870Gly

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: BRCA1: 2609C>G; Ala870Gly

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: N/A

PubMed Link: 31911673

Variant Present in the following documents:

View BVdb publication page

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Contribution of excision repair cross-complementing group 1 genotypes to triple negative breast cancer risk.

Plos One

Tsai, Chia-Wen CW; Chang, Wen-Shin WS; Shen, Te-Chun TC; Su, Chen-Hsien CH; Wang, Hwei-Chung HC; Liu, Liang-Chih LC; Bau, Da-Tian DT

Publication Date: 2018

Variant appearance in text: BRCA1: A870G

PubMed Link: 30096175

Variant Present in the following documents:

• Main text
• pone.0202112.pdf

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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: BRCA1: A870G

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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State of Art of Cancer Pharmacogenomics in Latin American Populations.

International Journal Of Molecular Sciences

López-Cortés, Andrés A; Guerrero, Santiago S; Redal, María Ana MA; Alvarado, Angel Tito AT; Quiñones, Luis Abel LA

Publication Date: 2017-05-23

Variant appearance in text: BRCA1: A870G

PubMed Link: 28545225

Variant Present in the following documents:

• ijms-18-00639.pdf

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Contribution of personalized Cyclin D1 genotype to triple negative breast cancer risk.

Biomedicine

Liu, Liang-Chih LC; Su, Chen-Hsien CH; Wang, Hwei-Chung HC; Chang, Wen-Shin WS; Tsai, Chia-Wen CW; Maa, Ming-Chei MC; Tsai, Chang-Hai CH; Tsai, Fuu-Jen FJ; Bau, Da-Tian DT

Publication Date: 2014

Variant appearance in text: BRCA1: A870G

PubMed Link: 25520916

Variant Present in the following documents:

• Main text
• 40681_2014_Article_3.pdf

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Expression of cyclin D1a and D1b as predictive factors for treatment response in colorectal cancer.

British Journal Of Cancer

Myklebust, M P MP; Li, Z Z; Tran, T H TH; Rui, H H; Knudsen, E S ES; Elsaleh, H H; Fluge, Ø Ø; Vonen, B B; Myrvold, H E HE; Leh, S S; Tveit, K M KM; Pestell, R G RG; Dahl, O O

Publication Date: 2012-11-06

Variant appearance in text: BRCA1: A870G

PubMed Link: 23099809

Variant Present in the following documents:

• Main text
• bjc2012463a.pdf

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Multiple pathway-based genetic variations associated with tobacco related multiple primary neoplasms.

Plos One

Kotnis, Ashwin A; Namkung, Junghyun J; Kannan, Sadhana S; Jayakrupakar, Nallala N; Park, Taesung T; Sarin, Rajiv R; Mulherkar, Rita R

Publication Date: 2012

Variant appearance in text: BRCA1: A870G

PubMed Link: 22253860

Variant Present in the following documents:

• pone.0030013.pdf

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Evaluation of functional genetic variants for breast cancer risk: results from the Shanghai breast cancer study.

American Journal Of Epidemiology

Zhang, Ben B; Beeghly-Fadiel, Alicia A; Lu, Wei W; Cai, Qiuyin Q; Xiang, Yong-Bing YB; Zheng, Ying Y; Long, Jirong J; Ye, Chuanzhong C; Gu, Kai K; Shu, Xiao-Ou XO; Gao, Yutang Y; Zheng, Wei W

Publication Date: 2011-05-15

Variant appearance in text: BRCA1: A870G

PubMed Link: 21454829

Variant Present in the following documents:

• Main text

View BVdb publication page

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The 2G allele of promoter region of matrix metalloproteinase-1 as an essential pre-condition for the early onset of oral squamous cell carcinoma.

Bmc Cancer

Nishizawa, Rishiho R; Nagata, Masaki M; Noman, Arhab A AA; Kitamura, Nobutaka N; Fujita, Hajime H; Hoshina, Hideyuki H; Kubota, Takehiko T; Itagaki, Manami M; Shingaki, Susumu S; Ohnishi, Makoto M; Kurita, Hiroshi H; Katsura, Kouji K; Saito, Chikara C; Yoshie, Hiromasa H; Takagi, Ritsuo R

Publication Date: 2007-10-05

Variant appearance in text: BRCA1: A870G

PubMed Link: 17919326

Variant Present in the following documents:

• 1471-2407-7-187.pdf

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Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.

Bmc Cancer

Savas, Sevtap S; Ozcelik, Hilmi H

Publication Date: 2005-08-19

Variant appearance in text: BRCA1: A870G

PubMed Link: 16111488

Variant Present in the following documents:

• 1471-2407-5-107.pdf

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