Publications:

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Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Ebiomedicine

Bonfiglio, Ferdinando F; Lasorsa, Vito Alessandro VA; Cantalupo, Sueva S; D'Alterio, Giuseppe G; Aievola, Vincenzo V; Boccia, Angelo A; Ardito, Martina M; Furini, Simone S; Renieri, Alessandra A; Morini, Martina M; Stainczyk, Sabine S; Westermann, Frank F; Paolella, Giovanni G; Eva, Alessandra A; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2022-12-06

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 36493725

Variant Present in the following documents:

• Main text
• mmc1.xlsx, sheet 8
• main.pdf

View BVdb publication page

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The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

The Journal Of Pathology. Clinical Research

Tessier-Cloutier, Basile B; Grewal, Jasleen K JK; Jones, Martin R MR; Pleasance, Erin E; Shen, Yaoqing Y; Cai, Ellen E; Dunham, Chris C; Hoang, Lynn L; Horst, Basil B; Huntsman, David G DG; Ionescu, Diana D; Karnezis, Anthony N AN; Lee, Anna F AF; Lee, Cheng Han CH; Lee, Tae Hoon TH; Twa, David Dw DD; Mungall, Andrew J AJ; Mungall, Karen K; Naso, Julia R JR; Ng, Tony T; Schaeffer, David F DF; Sheffield, Brandon S BS; Skinnider, Brian B; Smith, Tyler T; Williamson, Laura L; Zhong, Ellia E; Regier, Dean A DA; Laskin, Janessa J; Marra, Marco A MA; Gilks, C Blake CB; Jones, Steven Jm SJ; Yip, Stephen S

Publication Date: 2022-07

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 35257510

Variant Present in the following documents:

• CJP2-8-395-s002.xlsx, sheet 1

View BVdb publication page

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Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications

Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS

Publication Date: 2022-01-26

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 35082299

Variant Present in the following documents:

• 41467_2022_27987_MOESM20_ESM.xlsx, sheet 1

View BVdb publication page

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Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities.

Nature Communications

Cosgrove, Nicola N; Varešlija, Damir D; Keelan, Stephen S; Elangovan, Ashuvinee A; Atkinson, Jennifer M JM; Cocchiglia, Sinéad S; Bane, Fiona T FT; Singh, Vikrant V; Furney, Simon S; Hu, Chunling C; Carter, Jodi M JM; Hart, Steven N SN; Yadav, Siddhartha S; Goetz, Matthew P MP; Hill, Arnold D K ADK; Oesterreich, Steffi S; Lee, Adrian V AV; Couch, Fergus J FJ; Young, Leonie S LS

Publication Date: 2022-01-26

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 35082299

Variant Present in the following documents:

• 41467_2022_27987_MOESM20_ESM.xlsx, sheet 1

View BVdb publication page

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Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Cancers

Turchiano, Antonella A; Loconte, Daria Carmela DC; De Nola, Rosalba R; Arezzo, Francesca F; Chiarello, Giulia G; Pantaleo, Antonino A; Iacoviello, Matteo M; Bagnulo, Rosanna R; De Luisi, Annunziata A; Perrelli, Sonia S; Martino, Stefania S; Ranieri, Carlotta C; Garganese, Antonella A; Stella, Alessandro A; Forleo, Cinzia C; Loizzi, Vera V; Marinaccio, Marco M; Cicinelli, Ettore E; Cormio, Gennaro G; Resta, Nicoletta N

Publication Date: 2022-01-12

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 35053526

Variant Present in the following documents:

• Main text
• cancers-14-00365.pdf

View BVdb publication page

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Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.

Cancers

Turchiano, Antonella A; Loconte, Daria Carmela DC; De Nola, Rosalba R; Arezzo, Francesca F; Chiarello, Giulia G; Pantaleo, Antonino A; Iacoviello, Matteo M; Bagnulo, Rosanna R; De Luisi, Annunziata A; Perrelli, Sonia S; Martino, Stefania S; Ranieri, Carlotta C; Garganese, Antonella A; Stella, Alessandro A; Forleo, Cinzia C; Loizzi, Vera V; Marinaccio, Marco M; Cicinelli, Ettore E; Cormio, Gennaro G; Resta, Nicoletta N

Publication Date: 2022-01-12

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 35053526

Variant Present in the following documents:

• Main text
• cancers-14-00365.pdf

View BVdb publication page

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Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.

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

Camp, Sabrina Y SY; Kofman, Eric E; Reardon, Brendan B; Moore, Nathanael D ND; Al-Rubaish, Abdullah M AM; Aljumaan, Mohammed M; Al-Ali, Amein K AK; Van Allen, Eliezer M EM; Taylor-Weiner, Amaro A; AlDubayan, Saud H SH

Publication Date: 2021-05

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 33531667

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Ethnic-Specific Spectrum of Germline Nucleotide Variants in DNA Damage Response and Repair Genes in Hereditary Breast and Ovarian Cancer Patients of Tatar Descent.

Frontiers In Oncology

Brovkina, Olga I OI; Shigapova, Leila L; Chudakova, Daria A DA; Gordiev, Marat G MG; Enikeev, Rafael F RF; Druzhkov, Maxim O MO; Khodyrev, Dmitriy S DS; Shagimardanova, Elena I EI; Nikitin, Alexey G AG; Gusev, Oleg A OA

Publication Date: 2018

Variant appearance in text: BRCA1: 5329dup

PubMed Link: 30333958

Variant Present in the following documents:

• Main text
• fonc-08-00421.pdf

View BVdb publication page

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