Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

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MARC

Hakkaart, CUniversity of Otago (author)

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Article/chapterEnglish2022

Publisher, publication year, extent ...

2022-10-06
Springer Science and Business Media LLC,2022

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LIBRIS-ID:oai:prod.swepub.kib.ki.se:150869706
http://kipublications.ki.se/Default.aspx?queryparsed=id:150869706URI
https://doi.org/10.1038/s42003-022-03978-6DOI
https://lup.lub.lu.se/record/0964c6a6-cdc1-43e9-b451-a6a5cecc9680URI

Supplementary language notes

Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
BRCA1 protein
BRCA1 protein, human
BRCA2 protein
BRCA2 protein, human
messenger RNA
breast tumor
copy number variation
female
genetic predisposition
genetics
heterozygote
human
pathology
BRCA1 Protein
BRCA2 Protein
Breast Neoplasms
DNA Copy Number Variations
Female
Genetic Predisposition to Disease
Heterozygote
Humans
RNA, Messenger

Added entries (persons, corporate bodies, meetings, titles ...)

Pearson, JF (author)
Marquart, L (author)
Dennis, J (author)
Wiggins, GAR (author)
Barnes, DR (author)
Robinson, BA (author)
Mace, PD (author)
Aittomaki, K (author)
Andrulis, IL (author)
Arun, BK (author)
Azzollini, J (author)
Balmana, J (author)
Barkardottir, RB (author)
Belhadj, S (author)
Berger, L (author)
Blok, MJ (author)
Boonen, SE (author)
Borde, J (author)
Bradbury, AR (author)
Brunet, J (author)
Buys, SS (author)
Caligo, MA (author)
Campbell, I (author)
Chung, WK (author)
Claes, KBM (author)
Collonge-Rame, MA (author)
Cook, J (author)
Cosgrove, CUniversity of Otago (author)
Couch, FJ (author)
Daly, MB (author)
Dandiker, S (author)
Davidson, R (author)
de la Hoya, M (author)
de Putter, R (author)
Delnatte, C (author)
Dhawan, M (author)
Diez, O (author)
Ding, YC (author)
Domchek, SM (author)
Donaldson, A (author)
Eason, J (author)
Easton, DF (author)
Ehrencrona, H.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 Hospital(Swepub:lu)med-hen (author)
Engel, C (author)
Evans, DG (author)
Faust, U (author)
Feliubadalo, L (author)
Fostira, F (author)
Friedman, E (author)
Frone, M (author)
Frost, D (author)
Garber, J (author)
Gayther, SA (author)
Gehrig, A (author)
Gesta, P (author)
Godwin, AK (author)
Goldgar, DE (author)
Greene, MH (author)
Hahnen, E (author)
Hake, CR (author)
Hamann, U (author)
Hansen, TVO (author)
Hauke, J (author)
Hentschel, J (author)
Herold, N (author)
Honisch, E (author)
Hulick, PJ (author)
Imyanitov, EN (author)
Isaacs, C (author)
Izatt, L (author)
Izquierdo, A (author)
Jakubowska, A (author)
James, PA (author)
Janavicius, RKarolinska Institutet (author)
John, EM (author)
Joseph, V (author)
Karlan, BY (author)
Kemp, Z (author)
Kirk, J (author)
Konstantopoulou, I (author)
Koudijs, M (author)
Kwong, A (author)
Laitman, Y (author)
Lalloo, F (author)
Lasset, C (author)
Lautrup, C (author)
Lazaro, C (author)
Legrand, C (author)
Leslie, G (author)
Lesueur, F (author)
Mai, PL (author)
Manoukian, S (author)
Mari, V (author)
Martens, JWM (author)
McGuffog, L (author)
Mebirouk, N (author)
Meindl, A (author)
Miller, A (author)
Montagna, M (author)
Moserle, L (author)
Mouret-Fourme, E (author)
Musgrave, H (author)
Nambot, S (author)
Nathanson, KL (author)
Neuhausen, SL (author)
Nevanlinna, H (author)
Yie, JNY (author)
Nguyen-Dumont, T (author)
Nikitina-Zake, L (author)
Offit, K (author)
Olah, E (author)
Olopade, OI (author)
Osorio, A (author)
Ott, CE (author)
Park, SK (author)
Parsons, MT (author)
Pedersen, IS (author)
Peixoto, A (author)
Perez-Segura, P (author)
Peterlongo, P (author)
Pocza, T (author)
Radice, P (author)
Ramser, J (author)
Rantala, JKarolinska Institutet (author)
Rodriguez, GC (author)
Ronlund, K (author)
Rosenberg, EH (author)
Rossing, M (author)
Schmutzler, RK (author)
Shah, PYD (author)
Sharif, S (author)
Sharma, P (author)
Side, LE (author)
Simard, J (author)
Singer, CF (author)
Snape, K (author)
Steinemann, D (author)
Stoppa-Lyonnet, D (author)
Sutter, C (author)
Tan, YY (author)
Teixeira, MR (author)
Teo, SH (author)
Thomassen, M (author)
Thull, DL (author)
Tischkowitz, M (author)
Toland, AE (author)
Trainer, AH (author)
Tripathi, V (author)
Tung, NA (author)
van Engelen, K (author)
van Rensburg, EJ (author)
Vega, A (author)
Viel, A (author)
Walker, L (author)
Weitzel, JN (author)
Wevers, MR (author)
Chenevix-Trench, G (author)
Spurdle, AB (author)
Antoniou, AC (author)
Walker, LC (author)
University of OtagoAvdelningen för klinisk genetik (creator_code:org_t)

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In:Communications biology: Springer Science and Business Media LLC5:1, s. 1061-2399-3642

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By the author/editor: Hakkaart, C; Pearson, JF; Marquart, L; Dennis, J; Wiggins, GAR; Barnes, DR; show more...; 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; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

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