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1

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Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Zhang, Haoyu ; kConFab Investigators ; Ahearn, Thomas U. ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Genetics Vol. 52, No. 6 ( 2020-06), p. 572-581

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 52, No. 6 ( 2020-06), p. 572-581

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/s41588-020-0609-2

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 1494946-5

SSG: 12

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2

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Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Ferreira, Manuel A. ; Gamazon, Eric R. ; Al-Ejeh, Fares ; [et al.]

Springer Science and Business Media LLC ; 2019

In: Nature Communications Vol. 10, No. 1 ( 2019-04-15)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 10, No. 1 ( 2019-04-15)

Abstract: Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/s41467-018-08053-5

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2019

detail.hit.zdb_id: 2553671-0

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3

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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, Roger L ; ABCTB Investigators ; Kuchenbaecker, Karoline B ; [et al.]

Springer Science and Business Media LLC ; 2017

In: Nature Genetics Vol. 49, No. 12 ( 2017-12-01), p. 1767-1778

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 49, No. 12 ( 2017-12-01), p. 1767-1778

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.3785

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XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2017

detail.hit.zdb_id: 1494946-5

SSG: 12

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4

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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Figlioli, Gisella ; Bogliolo, Massimo ; Catucci, Irene ; [et al.]

Springer Science and Business Media LLC ; 2019

In: npj Breast Cancer Vol. 5, No. 1 ( 2019-11-01)

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In: npj Breast Cancer, Springer Science and Business Media LLC, Vol. 5, No. 1 ( 2019-11-01)

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1 , BRCA2 , PALB2 , ATM , and CHEK2 are associated with breast cancer risk. FANCM , which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM :p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2 . These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM −/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM :p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM :p.Arg658* and found that also FANCM :p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM :p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM -associated tumors.

Type of Medium: Online Resource

ISSN: 2374-4677

URL: Article

DOI: 10.1038/s41523-019-0127-5

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2019

detail.hit.zdb_id: 2843288-5

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5

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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Fachal, Laura ; GEMO Study Collaborators ; Aschard, Hugues ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Genetics Vol. 52, No. 1 ( 2020-01), p. 56-73

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 52, No. 1 ( 2020-01), p. 56-73

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/s41588-019-0537-1

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 1494946-5

SSG: 12

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6

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Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

Day, Felix R. ; Ruth, Katherine S. ; Thompson, Deborah J. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2015

In: Obstetrical & Gynecological Survey Vol. 70, No. 12 ( 2015-12), p. 758-762

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In: Obstetrical & Gynecological Survey, Ovid Technologies (Wolters Kluwer Health), Vol. 70, No. 12 ( 2015-12), p. 758-762

Type of Medium: Online Resource

ISSN: 0029-7828

URL: Article

DOI: 10.1097/01.ogx.0000473766.71624.99

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2015

detail.hit.zdb_id: 2043471-6

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7

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Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Day, Felix R ; The PRACTICAL Consortium ; Ruth, Katherine S ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Genetics Vol. 47, No. 11 ( 2015-11), p. 1294-1303

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 47, No. 11 ( 2015-11), p. 1294-1303

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.3412

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 1494946-5

SSG: 12

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8

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Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

Lopes Cardozo, Josephine M.N. ; Andrulis, Irene L. ; Bojesen, Stig E. ; [et al.]

American Society of Clinical Oncology (ASCO) ; 2023

In: Journal of Clinical Oncology Vol. 41, No. 10 ( 2023-04-01), p. 1849-1863

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In: Journal of Clinical Oncology, American Society of Clinical Oncology (ASCO), Vol. 41, No. 10 ( 2023-04-01), p. 1849-1863

Abstract: A polygenic risk score (PRS) consisting of 313 common genetic variants (PRS 313 ) is associated with risk of breast cancer and contralateral breast cancer. This study aimed to evaluate the association of the PRS 313 with clinicopathologic characteristics of, and survival following, breast cancer. METHODS Women with invasive breast cancer were included, 98,397 of European ancestry and 12,920 of Asian ancestry, from the Breast Cancer Association Consortium (BCAC), and 683 women from the European MINDACT trial. Associations between PRS 313 and clinicopathologic characteristics, including the 70-gene signature for MINDACT, were evaluated using logistic regression analyses. Associations of PRS 313 (continuous, per standard deviation) with overall survival (OS) and breast cancer–specific survival (BCSS) were evaluated with Cox regression, adjusted for clinicopathologic characteristics and treatment. RESULTS The PRS 313 was associated with more favorable tumor characteristics. In BCAC, increasing PRS 313 was associated with lower grade, hormone receptor–positive status, and smaller tumor size. In MINDACT, PRS 313 was associated with a low risk 70-gene signature. In European women from BCAC, higher PRS 313 was associated with better OS and BCSS: hazard ratio (HR) 0.96 (95% CI, 0.94 to 0.97) and 0.96 (95% CI, 0.94 to 0.98), but the association disappeared after adjustment for clinicopathologic characteristics (and treatment): OS HR, 1.01 (95% CI, 0.98 to 1.05) and BCSS HR, 1.02 (95% CI, 0.98 to 1.07). The results in MINDACT and Asian women from BCAC were consistent. CONCLUSION An increased PRS 313 is associated with favorable tumor characteristics, but is not independently associated with prognosis. Thus, PRS 313 has no role in the clinical management of primary breast cancer at the time of diagnosis. Nevertheless, breast cancer mortality rates will be higher for women with higher PRS 313 as increasing PRS 313 is associated with an increased risk of disease. This information is crucial for modeling effective stratified screening programs.

Type of Medium: Online Resource

ISSN: 0732-183X , 1527-7755

URL: Article

DOI: 10.1200/JCO.22.01978

RVK:

XA 52760

RVK:

XA 10000

Language: English

Publisher: American Society of Clinical Oncology (ASCO)

Publication Date: 2023

detail.hit.zdb_id: 2005181-5

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9

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Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

Shu, Xiang ; Wu, Lang ; Khankari, Nikhil K ; [et al.]

Oxford University Press (OUP) ; 2019

In: International Journal of Epidemiology Vol. 48, No. 3 ( 2019-06-01), p. 795-806

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In: International Journal of Epidemiology, Oxford University Press (OUP), Vol. 48, No. 3 ( 2019-06-01), p. 795-806

Abstract: In addition to the established association between general obesity and breast cancer risk, central obesity and circulating fasting insulin and glucose have been linked to the development of this common malignancy. Findings from previous studies, however, have been inconsistent, and the nature of the associations is unclear. Methods We conducted Mendelian randomization analyses to evaluate the association of breast cancer risk, using genetic instruments, with fasting insulin, fasting glucose, 2-h glucose, body mass index (BMI) and BMI-adjusted waist-hip-ratio (WHRadj BMI). We first confirmed the association of these instruments with type 2 diabetes risk in a large diabetes genome-wide association study consortium. We then investigated their associations with breast cancer risk using individual-level data obtained from 98 842 cases and 83 464 controls of European descent in the Breast Cancer Association Consortium. Results All sets of instruments were associated with risk of type 2 diabetes. Associations with breast cancer risk were found for genetically predicted fasting insulin [odds ratio (OR) = 1.71 per standard deviation (SD) increase, 95% confidence interval (CI) = 1.26-2.31, p = 5.09 × 10–4], 2-h glucose (OR = 1.80 per SD increase, 95% CI = 1.3 0-2.49, p = 4.02 × 10–4), BMI (OR = 0.70 per 5-unit increase, 95% CI = 0.65-0.76, p = 5.05 × 10–19) and WHRadj BMI (OR = 0.85, 95% CI = 0.79-0.91, p = 9.22 × 10–6). Stratified analyses showed that genetically predicted fasting insulin was more closely related to risk of estrogen-receptor [ER] -positive cancer, whereas the associations with instruments of 2-h glucose, BMI and WHRadj BMI were consistent regardless of age, menopausal status, estrogen receptor status and family history of breast cancer. Conclusions We confirmed the previously reported inverse association of genetically predicted BMI with breast cancer risk, and showed a positive association of genetically predicted fasting insulin and 2-h glucose and an inverse association of WHRadj BMI with breast cancer risk. Our study suggests that genetically determined obesity and glucose/insulin-related traits have an important role in the aetiology of breast cancer.

Type of Medium: Online Resource

ISSN: 0300-5771 , 1464-3685

URL: Article

DOI: 10.1093/ije/dyy201

RVK:

XF 4100

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2019

detail.hit.zdb_id: 1494592-7

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10

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Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Ahearn, Thomas U. ; Zhang, Haoyu ; Michailidou, Kyriaki ; [et al.]

Springer Science and Business Media LLC ; 2022

In: Breast Cancer Research Vol. 24, No. 1 ( 2022-01-04)

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In: Breast Cancer Research, Springer Science and Business Media LLC, Vol. 24, No. 1 ( 2022-01-04)

Abstract: Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear. Methods Among 106,571 invasive breast cancer cases and 95,762 controls of European ancestry with data on 173 breast cancer variants identified in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate variants in relation to multiple tumor features (ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and grade) adjusting for each other, and to intrinsic-like subtypes. Results Eighty-five of 173 variants were associated with at least one tumor feature (false discovery rate 〈 5%), most commonly ER and grade, followed by PR and HER2. Models for intrinsic-like subtypes found nearly all of these variants (83 of 85) associated at p 〈 0.05 with risk for at least one luminal-like subtype, and approximately half (41 of 85) of the variants were associated with risk of at least one non-luminal subtype, including 32 variants associated with triple-negative (TN) disease. Ten variants were associated with risk of all subtypes in different magnitude. Five variants were associated with risk of luminal A-like and TN subtypes in opposite directions. Conclusion This report demonstrates a high level of complexity in the etiology heterogeneity of breast cancer susceptibility variants and can inform investigations of subtype-specific risk prediction.

Type of Medium: Online Resource

ISSN: 1465-542X

URL: Article

DOI: 10.1186/s13058-021-01484-x

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2022

detail.hit.zdb_id: 2041618-0

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