(WFRF:(Singer CF)) pers:(Montagna M)
Sökning: (WFRF:(Singer CF)) pers:(Montagna M) > (2020-2023) > Copy number variant...
LIBRIS Formathandbok (Information om MARC21)
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 09092naa a2202509 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:150869706 | |
| 003 | SwePub | |
| 008 | 240701s2022 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:0964c6a6-cdc1-43e9-b451-a6a5cecc9680 | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1508697062 URI |
| 024 | 7 | a https://doi.org/10.1038/s42003-022-03978-62 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/0964c6a6-cdc1-43e9-b451-a6a5cecc96802 URI |
| 040 | a (SwePub)kid (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Hakkaart, Cu University of Otago4 aut |
| 245 | 1 0 | a Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers |
| 264 | c 2022-10-06 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2022 |
| 520 | a The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740 BRCA2 pathogenic variant carriers. We used these results to prioritise a candidate breast cancer risk-modifier gene for laboratory analysis and biological validation. Notably, the HR for deletions in BRCA1 suggested an elevated breast cancer risk estimate (hazard ratio (HR) = 1.21), 95% confidence interval (95% CI = 1.09–1.35) compared with non-CNV pathogenic variants. In contrast, deletions overlapping SULT1A1 suggested a decreased breast cancer risk (HR = 0.73, 95% CI 0.59-0.91) in BRCA1 pathogenic variant carriers. Functional analyses of SULT1A1 showed that reduced mRNA expression in pathogenic BRCA1 variant cells was associated with reduced cellular proliferation and reduced DNA damage after treatment with DNA damaging agents. These data provide evidence that deleterious variants in BRCA1 plus SULT1A1 deletions contribute to variable breast cancer risk in BRCA1 carriers. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 653 | a BRCA1 protein | |
| 653 | a BRCA1 protein, human | |
| 653 | a BRCA2 protein | |
| 653 | a BRCA2 protein, human | |
| 653 | a messenger RNA | |
| 653 | a breast tumor | |
| 653 | a copy number variation | |
| 653 | a female | |
| 653 | a genetic predisposition | |
| 653 | a genetics | |
| 653 | a heterozygote | |
| 653 | a human | |
| 653 | a pathology | |
| 653 | a BRCA1 Protein | |
| 653 | a BRCA2 Protein | |
| 653 | a Breast Neoplasms | |
| 653 | a DNA Copy Number Variations | |
| 653 | a Female | |
| 653 | a Genetic Predisposition to Disease | |
| 653 | a Heterozygote | |
| 653 | a Humans | |
| 653 | a RNA, Messenger | |
| 700 | 1 | a Pearson, JF4 aut |
| 700 | 1 | a Marquart, L4 aut |
| 700 | 1 | a Dennis, J4 aut |
| 700 | 1 | a Wiggins, GAR4 aut |
| 700 | 1 | a Barnes, DR4 aut |
| 700 | 1 | a Robinson, BA4 aut |
| 700 | 1 | a Mace, PD4 aut |
| 700 | 1 | a Aittomaki, K4 aut |
| 700 | 1 | a Andrulis, IL4 aut |
| 700 | 1 | a Arun, BK4 aut |
| 700 | 1 | a Azzollini, J4 aut |
| 700 | 1 | a Balmana, J4 aut |
| 700 | 1 | a Barkardottir, RB4 aut |
| 700 | 1 | a Belhadj, S4 aut |
| 700 | 1 | a Berger, L4 aut |
| 700 | 1 | a Blok, MJ4 aut |
| 700 | 1 | a Boonen, SE4 aut |
| 700 | 1 | a Borde, J4 aut |
| 700 | 1 | a Bradbury, AR4 aut |
| 700 | 1 | a Brunet, J4 aut |
| 700 | 1 | a Buys, SS4 aut |
| 700 | 1 | a Caligo, MA4 aut |
| 700 | 1 | a Campbell, I4 aut |
| 700 | 1 | a Chung, WK4 aut |
| 700 | 1 | a Claes, KBM4 aut |
| 700 | 1 | a Collonge-Rame, MA4 aut |
| 700 | 1 | a Cook, J4 aut |
| 700 | 1 | a Cosgrove, Cu University of Otago4 aut |
| 700 | 1 | a Couch, FJ4 aut |
| 700 | 1 | a Daly, MB4 aut |
| 700 | 1 | a Dandiker, S4 aut |
| 700 | 1 | a Davidson, R4 aut |
| 700 | 1 | a de la Hoya, M4 aut |
| 700 | 1 | a de Putter, R4 aut |
| 700 | 1 | a Delnatte, C4 aut |
| 700 | 1 | a Dhawan, M4 aut |
| 700 | 1 | a Diez, O4 aut |
| 700 | 1 | a Ding, YC4 aut |
| 700 | 1 | a Domchek, SM4 aut |
| 700 | 1 | a Donaldson, A4 aut |
| 700 | 1 | a Eason, J4 aut |
| 700 | 1 | a Easton, DF4 aut |
| 700 | 1 | a Ehrencrona, H.u Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital4 aut0 (Swepub:lu)med-hen |
| 700 | 1 | a Engel, C4 aut |
| 700 | 1 | a Evans, DG4 aut |
| 700 | 1 | a Faust, U4 aut |
| 700 | 1 | a Feliubadalo, L4 aut |
| 700 | 1 | a Fostira, F4 aut |
| 700 | 1 | a Friedman, E4 aut |
| 700 | 1 | a Frone, M4 aut |
| 700 | 1 | a Frost, D4 aut |
| 700 | 1 | a Garber, J4 aut |
| 700 | 1 | a Gayther, SA4 aut |
| 700 | 1 | a Gehrig, A4 aut |
| 700 | 1 | a Gesta, P4 aut |
| 700 | 1 | a Godwin, AK4 aut |
| 700 | 1 | a Goldgar, DE4 aut |
| 700 | 1 | a Greene, MH4 aut |
| 700 | 1 | a Hahnen, E4 aut |
| 700 | 1 | a Hake, CR4 aut |
| 700 | 1 | a Hamann, U4 aut |
| 700 | 1 | a Hansen, TVO4 aut |
| 700 | 1 | a Hauke, J4 aut |
| 700 | 1 | a Hentschel, J4 aut |
| 700 | 1 | a Herold, N4 aut |
| 700 | 1 | a Honisch, E4 aut |
| 700 | 1 | a Hulick, PJ4 aut |
| 700 | 1 | a Imyanitov, EN4 aut |
| 700 | 1 | a Isaacs, C4 aut |
| 700 | 1 | a Izatt, L4 aut |
| 700 | 1 | a Izquierdo, A4 aut |
| 700 | 1 | a Jakubowska, A4 aut |
| 700 | 1 | a James, PA4 aut |
| 700 | 1 | a Janavicius, Ru Karolinska Institutet4 aut |
| 700 | 1 | a John, EM4 aut |
| 700 | 1 | a Joseph, V4 aut |
| 700 | 1 | a Karlan, BY4 aut |
| 700 | 1 | a Kemp, Z4 aut |
| 700 | 1 | a Kirk, J4 aut |
| 700 | 1 | a Konstantopoulou, I4 aut |
| 700 | 1 | a Koudijs, M4 aut |
| 700 | 1 | a Kwong, A4 aut |
| 700 | 1 | a Laitman, Y4 aut |
| 700 | 1 | a Lalloo, F4 aut |
| 700 | 1 | a Lasset, C4 aut |
| 700 | 1 | a Lautrup, C4 aut |
| 700 | 1 | a Lazaro, C4 aut |
| 700 | 1 | a Legrand, C4 aut |
| 700 | 1 | a Leslie, G4 aut |
| 700 | 1 | a Lesueur, F4 aut |
| 700 | 1 | a Mai, PL4 aut |
| 700 | 1 | a Manoukian, S4 aut |
| 700 | 1 | a Mari, V4 aut |
| 700 | 1 | a Martens, JWM4 aut |
| 700 | 1 | a McGuffog, L4 aut |
| 700 | 1 | a Mebirouk, N4 aut |
| 700 | 1 | a Meindl, A4 aut |
| 700 | 1 | a Miller, A4 aut |
| 700 | 1 | a Montagna, M4 aut |
| 700 | 1 | a Moserle, L4 aut |
| 700 | 1 | a Mouret-Fourme, E4 aut |
| 700 | 1 | a Musgrave, H4 aut |
| 700 | 1 | a Nambot, S4 aut |
| 700 | 1 | a Nathanson, KL4 aut |
| 700 | 1 | a Neuhausen, SL4 aut |
| 700 | 1 | a Nevanlinna, H4 aut |
| 700 | 1 | a Yie, JNY4 aut |
| 700 | 1 | a Nguyen-Dumont, T4 aut |
| 700 | 1 | a Nikitina-Zake, L4 aut |
| 700 | 1 | a Offit, K4 aut |
| 700 | 1 | a Olah, E4 aut |
| 700 | 1 | a Olopade, OI4 aut |
| 700 | 1 | a Osorio, A4 aut |
| 700 | 1 | a Ott, CE4 aut |
| 700 | 1 | a Park, SK4 aut |
| 700 | 1 | a Parsons, MT4 aut |
| 700 | 1 | a Pedersen, IS4 aut |
| 700 | 1 | a Peixoto, A4 aut |
| 700 | 1 | a Perez-Segura, P4 aut |
| 700 | 1 | a Peterlongo, P4 aut |
| 700 | 1 | a Pocza, T4 aut |
| 700 | 1 | a Radice, P4 aut |
| 700 | 1 | a Ramser, J4 aut |
| 700 | 1 | a Rantala, Ju Karolinska Institutet4 aut |
| 700 | 1 | a Rodriguez, GC4 aut |
| 700 | 1 | a Ronlund, K4 aut |
| 700 | 1 | a Rosenberg, EH4 aut |
| 700 | 1 | a Rossing, M4 aut |
| 700 | 1 | a Schmutzler, RK4 aut |
| 700 | 1 | a Shah, PYD4 aut |
| 700 | 1 | a Sharif, S4 aut |
| 700 | 1 | a Sharma, P4 aut |
| 700 | 1 | a Side, LE4 aut |
| 700 | 1 | a Simard, J4 aut |
| 700 | 1 | a Singer, CF4 aut |
| 700 | 1 | a Snape, K4 aut |
| 700 | 1 | a Steinemann, D4 aut |
| 700 | 1 | a Stoppa-Lyonnet, D4 aut |
| 700 | 1 | a Sutter, C4 aut |
| 700 | 1 | a Tan, YY4 aut |
| 700 | 1 | a Teixeira, MR4 aut |
| 700 | 1 | a Teo, SH4 aut |
| 700 | 1 | a Thomassen, M4 aut |
| 700 | 1 | a Thull, DL4 aut |
| 700 | 1 | a Tischkowitz, M4 aut |
| 700 | 1 | a Toland, AE4 aut |
| 700 | 1 | a Trainer, AH4 aut |
| 700 | 1 | a Tripathi, V4 aut |
| 700 | 1 | a Tung, NA4 aut |
| 700 | 1 | a van Engelen, K4 aut |
| 700 | 1 | a van Rensburg, EJ4 aut |
| 700 | 1 | a Vega, A4 aut |
| 700 | 1 | a Viel, A4 aut |
| 700 | 1 | a Walker, L4 aut |
| 700 | 1 | a Weitzel, JN4 aut |
| 700 | 1 | a Wevers, MR4 aut |
| 700 | 1 | a Chenevix-Trench, G4 aut |
| 700 | 1 | a Spurdle, AB4 aut |
| 700 | 1 | a Antoniou, AC4 aut |
| 700 | 1 | a Walker, LC4 aut |
| 710 | 2 | a University of Otagob Avdelningen för klinisk genetik4 org |
| 773 | 0 | t Communications biologyd : Springer Science and Business Media LLCg 5:1, s. 1061-q 5:1<1061-x 2399-3642 |
| 856 | 4 | u http://dx.doi.org/10.1038/s42003-022-03978-6x freey FULLTEXT |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:150869706 |
| 856 | 4 8 | u https://doi.org/10.1038/s42003-022-03978-6 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/0964c6a6-cdc1-43e9-b451-a6a5cecc9680 |
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- Hakkaart, C
- Pearson, JF
- Marquart, L
- Dennis, J
- Wiggins, GAR
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- Robinson, BA
- Mace, PD
- Aittomaki, K
- Andrulis, IL
- Arun, BK
- Azzollini, J
- Balmana, J
- Barkardottir, RB
- Belhadj, S
- Berger, L
- Blok, MJ
- Boonen, SE
- Borde, J
- Bradbury, AR
- Brunet, J
- Buys, SS
- Caligo, MA
- Campbell, I
- Chung, WK
- Claes, KBM
- Collonge-Rame, M ...
- Cook, J
- Cosgrove, C
- Couch, FJ
- Daly, MB
- Dandiker, S
- Davidson, R
- de la Hoya, M
- de Putter, R
- Delnatte, C
- Dhawan, M
- Diez, O
- Ding, YC
- Domchek, SM
- Donaldson, A
- Eason, J
- Easton, DF
- Ehrencrona, H.
- Engel, C
- Evans, DG
- Faust, U
- Feliubadalo, L
- Fostira, F
- Friedman, E
- Frone, M
- Frost, D
- Garber, J
- Gayther, SA
- Gehrig, A
- Gesta, P
- Godwin, AK
- Goldgar, DE
- Greene, MH
- Hahnen, E
- Hake, CR
- Hamann, U
- Hansen, TVO
- Hauke, J
- Hentschel, J
- Herold, N
- Honisch, E
- Hulick, PJ
- Imyanitov, EN
- Isaacs, C
- Izatt, L
- Izquierdo, A
- Jakubowska, A
- James, PA
- Janavicius, R
- John, EM
- Joseph, V
- Karlan, BY
- Kemp, Z
- Kirk, J
- Konstantopoulou, ...
- Koudijs, M
- Kwong, A
- Laitman, Y
- Lalloo, F
- Lasset, C
- Lautrup, C
- Lazaro, C
- Legrand, C
- Leslie, G
- Lesueur, F
- Mai, PL
- Manoukian, S
- Mari, V
- Martens, JWM
- McGuffog, L
- Mebirouk, N
- Meindl, A
- Miller, A
- Montagna, M
- Moserle, L
- Mouret-Fourme, E
- Musgrave, H
- Nambot, S
- Nathanson, KL
- Neuhausen, SL
- Nevanlinna, H
- Yie, JNY
- Nguyen-Dumont, T
- Nikitina-Zake, L
- Offit, K
- Olah, E
- Olopade, OI
- Osorio, A
- Ott, CE
- Park, SK
- Parsons, MT
- Pedersen, IS
- Peixoto, A
- Perez-Segura, P
- Peterlongo, P
- Pocza, T
- Radice, P
- Ramser, J
- Rantala, J
- Rodriguez, GC
- Ronlund, K
- Rosenberg, EH
- Rossing, M
- Schmutzler, RK
- Shah, PYD
- Sharif, S
- Sharma, P
- Side, LE
- Simard, J
- Singer, CF
- Snape, K
- Steinemann, D
- Stoppa-Lyonnet, ...
- Sutter, C
- Tan, YY
- Teixeira, MR
- Teo, SH
- Thomassen, M
- Thull, DL
- Tischkowitz, M
- Toland, AE
- Trainer, AH
- Tripathi, V
- Tung, NA
- van Engelen, K
- van Rensburg, EJ
- Vega, A
- Viel, A
- Walker, L
- Weitzel, JN
- Wevers, MR
- Chenevix-Trench, ...
- Spurdle, AB
- Antoniou, AC
- Walker, LC
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