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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

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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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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

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Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 1494946-5

SSG: 12

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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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Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Park, Hanla A. ; Neumeyer, Sonja ; Michailidou, Kyriaki ; [et al.]

Springer Science and Business Media LLC ; 2021

In: British Journal of Cancer Vol. 125, No. 8 ( 2021-10-12), p. 1135-1145

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In: British Journal of Cancer, Springer Science and Business Media LLC, Vol. 125, No. 8 ( 2021-10-12), p. 1135-1145

Abstract: Despite a modest association between tobacco smoking and breast cancer risk reported by recent epidemiological studies, it is still equivocal whether smoking is causally related to breast cancer risk. Methods We applied Mendelian randomisation (MR) to evaluate a potential causal effect of cigarette smoking on breast cancer risk. Both individual-level data as well as summary statistics for 164 single-nucleotide polymorphisms (SNPs) reported in genome-wide association studies of lifetime smoking index (LSI) or cigarette per day (CPD) were used to obtain MR effect estimates. Data from 108,420 invasive breast cancer cases and 87,681 controls were used for the LSI analysis and for the CPD analysis conducted among ever-smokers from 26,147 cancer cases and 26,072 controls. Sensitivity analyses were conducted to address pleiotropy. Results Genetically predicted LSI was associated with increased breast cancer risk (OR 1.18 per SD, 95% CI: 1.07–1.30, P = 0.11 × 10 –2 ), but there was no evidence of association for genetically predicted CPD (OR 1.02, 95% CI: 0.78–1.19, P = 0.85). The sensitivity analyses yielded similar results and showed no strong evidence of pleiotropic effect. Conclusion Our MR study provides supportive evidence for a potential causal association with breast cancer risk for lifetime smoking exposure but not cigarettes per day among smokers.

Type of Medium: Online Resource

ISSN: 0007-0920 , 1532-1827

URL: Article

DOI: 10.1038/s41416-021-01432-8

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XA 33500

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Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2021

detail.hit.zdb_id: 2002452-6

detail.hit.zdb_id: 80075-2

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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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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Escala-Garcia, Maria ; Canisius, Sander ; Keeman, Renske ; [et al.]

Springer Science and Business Media LLC ; 2021

In: Scientific Reports Vol. 11, No. 1 ( 2021-10-05)

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In: Scientific Reports, Springer Science and Business Media LLC, Vol. 11, No. 1 ( 2021-10-05)

Abstract: Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10 −8 and 4.42 × 10 −8 ). In silico analysis suggested a potential regulatory effect of the variants on the nearby target genes SDE2 and H3F3A . However, the variants showed no evidence of association in a smaller replication dataset. The validation dataset was obtained from the SNPs to Risk of Metastasis (StoRM) study and included 293 patients with metastatic primary breast cancer at diagnosis. Ultimately, larger replication studies are needed to confirm the identified associations.

Type of Medium: Online Resource

ISSN: 2045-2322

URL: Article

DOI: 10.1038/s41598-021-99409-3

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2021

detail.hit.zdb_id: 2615211-3

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Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?

Park, JooYong ; Choi, Ji-Yeob ; Choi, Jaesung ; [et al.]

MDPI AG ; 2021

In: Cancers Vol. 13, No. 10 ( 2021-05-14), p. 2370-

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In: Cancers, MDPI AG, Vol. 13, No. 10 ( 2021-05-14), p. 2370-

Abstract: In this study we aim to examine gene–environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10−3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10−4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.

Type of Medium: Online Resource

ISSN: 2072-6694

URL: Article

DOI: 10.3390/cancers13102370

Language: English

Publisher: MDPI AG

Publication Date: 2021

detail.hit.zdb_id: 2527080-1

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Long-Term Morbidity and Health After Early Menopause Due to Oophorectomy in Women at Increased Risk of Ovarian Cancer: Protocol for a Nationwide Cross-Sectional Study With Prospective Follow-Up (HARMOny Study)

Terra, Lara ; Hooning, Maartje J ; Heemskerk-Gerritsen, Bernadette A M ; [et al.]

JMIR Publications Inc. ; 2021

In: JMIR Research Protocols Vol. 10, No. 1 ( 2021-1-22), p. e24414-

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In: JMIR Research Protocols, JMIR Publications Inc., Vol. 10, No. 1 ( 2021-1-22), p. e24414-

Abstract: BRCA1/2 mutation carriers are recommended to undergo risk-reducing salpingo-oophorectomy (RRSO) at 35 to 45 years of age. RRSO substantially decreases ovarian cancer risk, but at the cost of immediate menopause. Knowledge about the potential adverse effects of premenopausal RRSO, such as increased risk of cardiovascular disease, osteoporosis, cognitive dysfunction, and reduced health-related quality of life (HRQoL), is limited. Objective The aim of this study is to assess the long-term health effects of premenopausal RRSO on cardiovascular disease, bone health, cognitive functioning, urological complaints, sexual functioning, and HRQoL in women with high familial risk of breast or ovarian cancer. Methods We will conduct a multicenter cross-sectional study with prospective follow-up, nested in a nationwide cohort of women at high familial risk of breast or ovarian cancer. A total of 500 women who have undergone RRSO before 45 years of age, with a follow-up period of at least 10 years, will be compared with 250 women (frequency matched on current age) who have not undergone RRSO or who have undergone RRSO at over 55 years of age. Participants will complete an online questionnaire on lifestyle, medical history, cardiovascular risk factors, osteoporosis, cognitive function, urological complaints, and HRQoL. A full cardiovascular assessment and assessment of bone mineral density will be performed. Blood samples will be obtained for marker analysis. Cognitive functioning will be assessed objectively with an online neuropsychological test battery. Results This study was approved by the institutional review board in July 2018. In February 2019, we included our first participant. As of November 2020, we had enrolled 364 participants in our study. Conclusions Knowledge from this study will contribute to counseling women with a high familial risk of breast/ovarian cancer about the long-term health effects of premenopausal RRSO. The results can also be used to offer health recommendations after RRSO. Trial Registration ClinicalTrials.gov NCT03835793; https://clinicaltrials.gov/ct2/show/NCT03835793. International Registered Report Identifier (IRRID) DERR1-10.2196/24414

Type of Medium: Online Resource

ISSN: 1929-0748

URL: Article

DOI: 10.2196/24414

Language: English

Publisher: JMIR Publications Inc.

Publication Date: 2021

detail.hit.zdb_id: 2719222-2

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Long‐term effects of premenopausal risk‐reducing salpingo‐oophorectomy on cognition in women with high familial risk of ovarian cancer: A cross‐sectional study

Terra, Lara ; Lee Meeuw Kjoe, Philippe R. ; Agelink van Rentergem, Joost A. ; [et al.]

Wiley ; 2023

In: BJOG: An International Journal of Obstetrics & Gynaecology Vol. 130, No. 8 ( 2023-07), p. 968-977

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In: BJOG: An International Journal of Obstetrics & Gynaecology, Wiley, Vol. 130, No. 8 ( 2023-07), p. 968-977

Abstract: To examine the effect of a premenopausal risk‐reducing salpingo‐oophorectomy (RRSO) in women at increased risk of ovarian cancer on objective and subjective cognition at least 10 years after RRSO. Design A cross‐sectional study with prospective follow‐up, nested in a nationwide cohort. Setting Multicentre in the Netherlands. Population or Sample 641 women (66% BRCA1/2 pathogenic variant carriers) who underwent either a premenopausal RRSO ≤ age 45 ( n = 436) or a postmenopausal RRSO ≥ age 54 ( n = 205). All participants were older than 55 years at recruitment. Methods Participants completed an online cognitive test battery and a questionnaire on subjective cognition. We used multivariable regression analyses, adjusting for age, education, breast cancer, hormone replacement therapy, cardiovascular risk factors and depression. Main Outcome Measures The influence of RRSO on objective and subjective cognition of women with a premenopausal RRSO compared with women with a postmenopausal RRSO. Results After adjustment, women with a premenopausal RRSO (mean time since RRSO 18.2 years) performed similarly on objective cognitive tests compared with women with a postmenopausal RRSO (mean time since RRSO 11.9 years). However, they more frequently reported problems with reasoning (odds ratio [OR] 1.8, 95% confidence interval [95% CI] 1.1–3.1) and multitasking (OR 1.9, 95% CI 1.1–3.4) than women with a postmenopausal RRSO. This difference between groups disappeared in an analysis restricted to women of comparable ages (60–70 years). Conclusions Reassuringly, approximately 18 years after RRSO, we found no association between premenopausal RRSO and objective cognition.

Type of Medium: Online Resource

ISSN: 1470-0328 , 1471-0528

URL: Issue

URL: Article

DOI: 10.1111/bjo.v130.8

DOI: 10.1111/1471-0528.17415

Language: English

Publisher: Wiley

Publication Date: 2023

detail.hit.zdb_id: 2036469-6

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Prophylactic Mastectomy in BRCA1/2 Mutation Carriers and Women at Risk of Hereditary Breast Cancer: Long-Term Experiences at the Rotterdam Family Cancer Clinic

Heemskerk-Gerritsen, Bernadette A. M. ; Brekelmans, Cecile T. M. ; Menke-Pluymers, Marian B. E. ; [et al.]

Springer Science and Business Media LLC ; 2007

In: Annals of Surgical Oncology Vol. 14, No. 12 ( 2007-12), p. 3335-3344

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In: Annals of Surgical Oncology, Springer Science and Business Media LLC, Vol. 14, No. 12 ( 2007-12), p. 3335-3344

Type of Medium: Online Resource

ISSN: 1068-9265 , 1534-4681

URL: Article

DOI: 10.1245/s10434-007-9449-x

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2007

detail.hit.zdb_id: 2074021-9

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Berlin Brandenburg