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The dataset generation failed
Error code: DatasetGenerationError
Exception: CastError
Message: Couldn't cast
id: string
external_id: string
name: string
canonical_name: string
entity_type: string
synonyms: null
description: null
source_db: string
metadata: null
created_at: string
updated_at: string
embedding_large: null
section: string
token_count: int64
paper_id: string
embedding: null
chunk_index: int64
page: null
content: string
to
{'id': Value('string'), 'paper_id': Value('string'), 'chunk_index': Value('int64'), 'token_count': Value('int64'), 'content': Value('string'), 'section': Value('string'), 'page': Value('null'), 'created_at': Value('string'), 'embedding': Value('null'), 'embedding_large': Value('null')}
because column names don't match
Traceback: Traceback (most recent call last):
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1872, in _prepare_split_single
for key, table in generator:
^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/packaged_modules/json/json.py", line 260, in _generate_tables
self._cast_table(pa_table, json_field_paths=json_field_paths),
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/packaged_modules/json/json.py", line 120, in _cast_table
pa_table = table_cast(pa_table, self.info.features.arrow_schema)
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2272, in table_cast
return cast_table_to_schema(table, schema)
^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/table.py", line 2218, in cast_table_to_schema
raise CastError(
datasets.table.CastError: Couldn't cast
id: string
external_id: string
name: string
canonical_name: string
entity_type: string
synonyms: null
description: null
source_db: string
metadata: null
created_at: string
updated_at: string
embedding_large: null
section: string
token_count: int64
paper_id: string
embedding: null
chunk_index: int64
page: null
content: string
to
{'id': Value('string'), 'paper_id': Value('string'), 'chunk_index': Value('int64'), 'token_count': Value('int64'), 'content': Value('string'), 'section': Value('string'), 'page': Value('null'), 'created_at': Value('string'), 'embedding': Value('null'), 'embedding_large': Value('null')}
because column names don't match
The above exception was the direct cause of the following exception:
Traceback (most recent call last):
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 1347, in compute_config_parquet_and_info_response
parquet_operations = convert_to_parquet(builder)
^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/src/services/worker/src/worker/job_runners/config/parquet_and_info.py", line 980, in convert_to_parquet
builder.download_and_prepare(
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 884, in download_and_prepare
self._download_and_prepare(
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 947, in _download_and_prepare
self._prepare_split(split_generator, **prepare_split_kwargs)
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1739, in _prepare_split
for job_id, done, content in self._prepare_split_single(
^^^^^^^^^^^^^^^^^^^^^^^^^^^
File "/usr/local/lib/python3.12/site-packages/datasets/builder.py", line 1922, in _prepare_split_single
raise DatasetGenerationError("An error occurred while generating the dataset") from e
datasets.exceptions.DatasetGenerationError: An error occurred while generating the datasetNeed help to make the dataset viewer work? Make sure to review how to configure the dataset viewer, and open a discussion for direct support.
id string | paper_id string | chunk_index int64 | token_count int64 | content string | section string | page null | created_at string | embedding null | embedding_large null |
|---|---|---|---|---|---|---|---|---|---|
dd3410ba-9ca0-4d11-b2b9-001d784c39bb | 21c38315-daad-4447-a068-daf5a41ce257 | 0 | 384 | <h4>Background</h4>As the data on BRCA1/2-associated breast and ovarian cancer prevalence after prophylactic surgery has not been exhaustively investigated yet, we aimed to evaluate the cancer prevalence in a single center cohort of BRCA1 and BRCA2 carriers after conducting prophylactic mastectomy, as well as prophylac... | Abstract | null | 2026-03-21T07:16:11.231478300Z | null | null |
31c7f85d-858e-4d29-9e42-44372024d3ce | 21c38315-daad-4447-a068-daf5a41ce257 | 1 | 34 | Risk of Breast and Ovarian Cancer After Prophylactic Mastectomy and Salpingo-Oophorectomy in BRCA1/2 Germline Variant Carriers: A Retrospective Cohort Study From a Single German Center. | Title | null | 2026-03-21T07:16:11.231480900Z | null | null |
5c67d979-eecd-4ff1-9cb8-dcb738cb7b8c | 21c38315-daad-4447-a068-daf5a41ce257 | 2 | 395 | As the data on BRCA1/2 ‐associated breast and ovarian cancer prevalence after prophylactic surgery has not been exhaustively investigated yet, we aimed to evaluate the cancer prevalence in a single center cohort of BRCA1 and BRCA2 carriers after conducting prophylactic mastectomy, as well as prophylactic bilateral salp... | Abstract | null | 2026-03-21T07:16:11.231482700Z | null | null |
2b89b464-b103-4e1f-8f91-b2aa19b33796 | 21c38315-daad-4447-a068-daf5a41ce257 | 3 | 510 | Breast cancer is the most common cancer among women with an evaluated lifetime risk of 13.2% [ 1 ]. Familial susceptibility to breast cancer thereby accounts for approximately 30%–40% of all breast cancer cases. An estimated 10% of all breast cancers are developed monogenic, meaning that a single disease‐causing (patho... | Introduction | null | 2026-03-21T07:16:11.231484300Z | null | null |
aa120eeb-c432-4a99-a7d2-6612713417e2 | 21c38315-daad-4447-a068-daf5a41ce257 | 4 | 319 | breast and ovarian cancer, a great share of these carriers opt for a primary preventive approach of prophylactic surgery, primarily PBSO, as effective screening options for early detection of ovarian cancer are still missing. PBSO can reduce the risk of developing ovarian cancer by 80%–90% [ 10 , 11 , 12 , 13 , 14 ]. U... | Introduction | null | 2026-03-21T07:16:11.231487100Z | null | null |
77ab8a80-cecd-47f9-a3cc-3e56ae93d4f9 | 21c38315-daad-4447-a068-daf5a41ce257 | 5 | 510 | Five hundred and fifty‐four study participants are breast cancer diseased with a mean age of 43.4 years at time of diagnosis. 89.3% had unilateral and 4.7% bilateral breast cancer at time of first diagnosis (6% unknown localization). Complete data on hormone receptor and Her2 status was available for 412 patients. A to... | Breast Cancer | null | 2026-03-21T07:16:11.231488600Z | null | null |
33f86e93-f3c1-4766-80b1-753ffbb64645 | 21c38315-daad-4447-a068-daf5a41ce257 | 6 | 510 | with a share of 67.3%. 19.7% had an ipsilateral recurrence and 13.0% an ipsilateral secondary cancer. 65.5% were g BRCA1 and 33.9% were g BRCA2 carriers. In relation to the total diseased cohort, 17.9% of all gBRCA1 and 15.2% of all gBRCA2 carriers developed a contralateral secondary cancer. For 129 patients we had com... | Breast Cancer | null | 2026-03-21T07:16:11.231490200Z | null | null |
8c77b50a-0d5a-4ffa-ae63-9344f3308d98 | 21c38315-daad-4447-a068-daf5a41ce257 | 7 | 71 | BRCA1 gPV; n = 10 BRCA2 gPV). Of these, 6 patients (1.1%) also suffered a fourth breast cancer ( BRCA1 carrier: n = 4; BRCA2 carrier: n = 2). On average a third cancer appeared 11.2 years (SD = 6.68) and a fourth cancer 13.5 years (SD = 7.15) after the first cancer. | Breast Cancer | null | 2026-03-21T07:16:11.231491900Z | null | null |
cabcf059-a92a-42a2-9c6d-50b4b09a5d03 | 21c38315-daad-4447-a068-daf5a41ce257 | 8 | 138 | In our analysis 143 patients had ovarian cancer. The mean age at the diagnosis was 55.5 years (SD = 9.5). 71.3% were g BRCA1‐ and 28.7% g BRCA2‐ carriers. We noted 6 incidental findings of cancer when conducting PBSO. Out of these 6 patients, 4 patients were diagnosed with early‐stage ovarian cancer (max. pT1c), one pa... | Ovarian Cancer | null | 2026-03-21T07:16:11.231493Z | null | null |
9d77e37a-e45b-45fc-ab27-cb6f7b6ba336 | 21c38315-daad-4447-a068-daf5a41ce257 | 9 | 92 | In the breast cancer diseased group ( n = 554) 39.7% underwent a PBSO with no pathological result. Of these, 55.5% were carriers of a gPV in BRCA1 and 44.1% in gBRCA2 ( p = 0.047). Mean age at the intervention was 48.9 years (SD = 10.10) (mean age gBRCA1 47.7 years ( n = 112; SD = 9.9)), gBRCA2 50.4 years ( n = 91; SD ... | Prophylactic Bilateral Salpingo‐Oophorectomy | null | 2026-03-21T07:16:11.231494400Z | null | null |
d24c2e38-2bfc-4ab3-b3ff-86eb1b96ecff | 21c38315-daad-4447-a068-daf5a41ce257 | 10 | 263 | Among the non‐diseased carriers ( n = 232) 59.9% carried a gPV in BRCA1 ( n = 139) and 40.1% in the BRCA2 gene ( n = 93). 13.4% opted for a bilateral prophylactic mastectomy exclusively (mean age 31.6 years; age range 19–44; SD = 6.4), 17.7% for PBSO (mean age 45.6 years; SD = 8.251) and 10.8% for both surgeries (mean ... | Non‐Diseased Mutation Carriers | null | 2026-03-21T07:16:11.231495700Z | null | null |
3fe5589d-c342-4a84-967c-6f8d786bf00a | 21c38315-daad-4447-a068-daf5a41ce257 | 11 | 234 | 19.3% ( n = 124) of all patients in the cancer diseased group ( n = 643) participated in the intensified cancer screening program at rechts der Isar hospital. 14.6% were not included into the program due to bilateral mastectomy and 66.1% did not participate at all or visited a different hospital for the diagnostics. Ou... | Cancer Screening Participation | null | 2026-03-21T07:16:11.231497100Z | null | null |
8725e6d6-54c8-449f-9cf4-d8d8e7282042 | 21c38315-daad-4447-a068-daf5a41ce257 | 12 | 176 | On 14.05.2013 Angelina Jolie published an article in the New York Times , where she addressed the identification of her gPV in the BRCA1 gene and the prophylactic bilateral mastectomy she had undergone since [ 37 ]. The “Jolie effect” describes the effects the article has had since that in healthcare. A few studies sta... | Jolie Effect | null | 2026-03-21T07:16:11.231499300Z | null | null |
8a793f67-573f-4ec2-99b6-66e784233d89 | 21c38315-daad-4447-a068-daf5a41ce257 | 13 | 172 | As the study was executed with retrospective data over a long period of time, many patient cases were incomplete, and we did not have access to the same amount of data for each patient. We tried to obtain more current data on the patients through a follow‐up questionnaire, but even then, there were still many cases wit... | Limitations | null | 2026-03-21T07:16:11.231500100Z | null | null |
c499be18-7cd2-4cdc-a019-8588e3c077bb | 21c38315-daad-4447-a068-daf5a41ce257 | 14 | 334 | We included 875 women that were tested positive for gPV in BRCA1 and BRCA2 between 2002 and 2022 at the Center of Hereditary Breast and Ovarian Cancer (FBREK‐Center) of the Technical University Munich (TU Munich), Germany. The study is approved by the local Ethical Committee of the Technical University Munich (ID‐Nr. 2... | Materials and Methods | null | 2026-03-21T07:16:11.231501700Z | null | null |
03d5ce0b-5c46-4d76-9119-ff548484ac16 | 21c38315-daad-4447-a068-daf5a41ce257 | 15 | 58 | Sabine Grill: conceptualization, methodology, resources, writing – review and editing, supervision, project administration. Sara Mendes: methodology, investigation, formal analysis, writing – original draft, data curation, visualization. Marion Kiechle: conceptualization, methodology, resources, project administration,... | Author Contributions | null | 2026-03-21T07:16:11.231503Z | null | null |
ab94d9ba-eff5-4086-942c-5a670492f30c | 21c38315-daad-4447-a068-daf5a41ce257 | 16 | 8 | The authors have nothing to report. | Funding | null | 2026-03-21T07:16:11.231503800Z | null | null |
3fc05648-4c0f-4034-b491-a7b2591a2afc | 21c38315-daad-4447-a068-daf5a41ce257 | 17 | 40 | The study is approved by the local Ethical Committee of the Technical University Munich (ID‐Nr. 2022‐476‐S‐KK) and written informed consent was obtained from all participants before entry into the study. | Ethics Statement | null | 2026-03-21T07:16:11.231504500Z | null | null |
1a76791e-9258-49bc-bfdc-ca1ea412676b | 21c38315-daad-4447-a068-daf5a41ce257 | 18 | 124 | Sara Mendes, Maryam Yahiaoui‐Doktor and Eva Maria Fallenberg declare no conflicts of interest. Marion Kiechle: Renumeration: Springer Press, Biermann Press, Celgene, Astra Zeneca, Myriad Genetics, TEVA, Eli Lilly, GSK, Seagen, AllergoSan, FOMF, Roche, BESINS, Bayer AG. Consultant/Advisory Role: Myriad Genetics, Bavaria... | Conflicts of Interest | null | 2026-03-21T07:16:11.231505500Z | null | null |
2014c3fd-5a55-4a48-81c5-0e25ac100a1a | 21c38315-daad-4447-a068-daf5a41ce257 | 19 | 56 | Dataset: S1 Anonymized dataset of healthy gPV BRCA1/2 carriers. Includes clinical parameters, mutation status, and surgical history for all study participants. Dataset: S2 Anonymized dataset of diseased gPV BRCA1/2 carriers. Includes clinical parameters, mutation status, and surgical history for all study participants. | Supporting information | null | 2026-03-21T07:16:11.231506Z | null | null |
24ffdc2e-1afe-4462-bd9b-8359b587efbd | 21c38315-daad-4447-a068-daf5a41ce257 | 20 | 24 | The data that supports the findings of this study are available in the Supporting Information of this article. | Data Availability Statement | null | 2026-03-21T07:16:11.231507300Z | null | null |
db4adbb3-a1f6-4256-8532-15888db30b75 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 0 | 450 | <h4>Background</h4>Germline mutations of BRCA1 and BRCA2 may impair DNA repair in the ovarian cortex, leading to increased oocyte apoptosis, thus, affecting ovarian reserve. Aim of this study was to assess follicular density in ovarian biopsies from women with breast cancer carrying BRCA1 and BRCA2 mutations who underw... | Abstract | null | 2026-03-21T07:16:11.328359700Z | null | null |
257559d0-fd63-4f4a-9666-834228dbb3c5 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 1 | 26 | Ovarian follicular density in women with BRCA1 and BRCA2 mutations: new insights into the negative impact on ovarian reserve. | Title | null | 2026-03-21T07:16:11.328361800Z | null | null |
d54f9601-e22d-4ce5-8a81-131d2c156ae0 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 2 | 490 | Germline mutations of BRCA1 and BRCA2 may impair DNA repair in the ovarian cortex, leading to increased oocyte apoptosis, thus, affecting ovarian reserve. Aim of this study was to assess follicular density in ovarian biopsies from women with breast cancer carrying BRCA1 and BRCA2 mutations who underwent ovarian tissue ... | Abstract | null | 2026-03-21T07:16:11.328363800Z | null | null |
f22531b4-6624-4681-85c3-00b029cce51d | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 3 | 15 | Received 2025 Jan 22; Accepted 2025 Nov 7; Collection date 2026. | null | null | 2026-03-21T07:16:11.328365100Z | null | null |
47a4fe3b-148c-49c2-9a23-e340c869beeb | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 4 | 436 | BRCA1 (Breast Cancer Gene 1) and BRCA2 (Breast Cancer Gene 2) are genes that play a critical role in maintaining genomic integrity by repairing DNA damage [ 1 ]. Germline mutations in BRCA1 or BRCA2, significantly increase risk of high-grade serous ovarian cancer, fallopian tube cancer, primary peritoneal cancer and br... | Introduction | null | 2026-03-21T07:16:11.328366600Z | null | null |
d9a18f4b-6301-48f2-97ff-7ad982f5ac49 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 5 | 331 | This was a single center, observational, cross-sectional study following an a priori defined study protocol. The study was carried out in a tertiary level referral center for fertility preservation treatment (IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy). The whole study was reported according to ... | Study protocol, selection criteria and study outcomes | null | 2026-03-21T07:16:11.328369Z | null | null |
15d9ed37-1de0-41e1-996f-aa6479f70413 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 6 | 42 | In this study OTC included a large biopsy from one or both ovaries through laparoscopy [ 12 ], followed by cryopreservation of the excised tissue for future transplantation after cancer remission. | Surgical procedure for ovarian tissue collection | null | 2026-03-21T07:16:11.328370500Z | null | null |
27d422fa-07e0-4fd2-bf3d-e5975fd15b78 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 7 | 302 | The analysis was conducted by a biologist specialized in fertility preservation techniques. Histological analysis was performed at the time of laparoscopy, using fresh samples, to assess the follicular density. In detail, one fragment (± 2 mm × 2 mm × 1 mm) from one ovary (or both ovaries in cases of bilateral biopsies... | Assessment of follicular density | null | 2026-03-21T07:16:11.328372100Z | null | null |
99babc0d-90a3-42c4-9e40-f9aa67efd726 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 8 | 155 | The BRCA1/BRCA2 mutational status was assessed for all patients included in the study. Specifically, patients were contacted to confirm their mutational status if it was not documented in the medical records. However, over the time span during which ovarian tissue biopsies were performed, the criteria for testing germl... | Determination of BRCA1/BRCA2 mutational status | null | 2026-03-21T07:16:11.328373200Z | null | null |
e31587ab-9e88-46fc-8952-d75128dd10b7 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 9 | 342 | The 95% confidence intervals (CIs) for the median follicular density in the study groups were calculated using a binomial-based exact method, with linear interpolation applied to improve the accuracy of the estimated CIs. The extremes were fixed at the minimum and maximum sample value [ 15 ]. We used the Wilcoxon rank-... | Statistical analysis and power analysis | null | 2026-03-21T07:16:11.328374600Z | null | null |
c9a50627-6d1e-4a71-a21c-25427a94e929 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 10 | 50 | The study received approval from the Institutional Review Board (CE-AVEC 320/2021/Oss/AOUBo) and was carried out in accordance with the Helsinki Declaration. All patients signed an informed consent for the use of their anonymized data for the study. | Ethical statement | null | 2026-03-21T07:16:11.328375300Z | null | null |
f23f265c-ca8e-4d56-ac19-84a23564e895 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 11 | 510 | During the study period, 231 consecutive women with breast cancer underwent OTC. Fifteen patients (6.5%) were excluded from the study analyses since they did not meet the selection criteria. As a result, a total of 216 (93.5%) patients were considered for the analyses (Table 1 ). Demographic and clinical characteristic... | Study population | null | 2026-03-21T07:16:11.328377Z | null | null |
e9de7046-1613-4bf2-882e-166d6256bce9 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 12 | 219 | p = 0.209). Regarding the 2019 WHO Breast Cancer Histotype, the most common histologic type across all groups was invasive ductal carcinoma (85.2% in the overall cohort, 77.8% in BRCA1 carriers, and 84.6% in BRCA2 carriers). There was no significant difference in histotype distribution between BRCA1, BRCA2, and the ove... | Study population | null | 2026-03-21T07:16:11.328378300Z | null | null |
8f483d75-4d55-4283-81bc-098f1cfe454e | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 13 | 344 | No significant difference in follicular density was observed among women without BRCA mutations, those with BRCA1 mutations, and those with BRCA2 mutations. The median follicular density was 4.0/mm 2 (range 0–74.5) in BRCA-negative women, 3.5/mm 2 (range 0–20) in women with BRCA1 mutations, and 4.0/mm 2 (range 0–32) in... | Study outcomes | null | 2026-03-21T07:16:11.328379700Z | null | null |
3314f675-e7b6-46d2-bdf1-43a7d6afe16d | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 14 | 156 | In a post-hoc analysis, we re-evaluated the data after excluding seven non–BRCA-mutated patients who had not been initially referred for genetic testing according to clinical criteria at that time. Following this exclusion, no significant difference in follicular density was observed among women without BRCA mutations,... | Post-hoc | null | 2026-03-21T07:16:11.328381Z | null | null |
7fd582cb-75b4-4615-a740-3238c13e7672 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 15 | 510 | In this study, we found no significant differences in follicular density between ovarian tissue biopsies from women carrying BRCA1 and BRCA2 mutations and those from non-carrier women, and these findings were further confirmed after adjusting for age. BRCA1 and BRCA2 are tumor suppressor genes primarily recognized for ... | Main findings | null | 2026-03-21T07:16:11.328381900Z | null | null |
e0a2636b-66d1-405d-b45f-ba985cbe075d | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 16 | 406 | the primordial to the ovulatory phase. Primordial follicles were composed of primary oocytes arrested in meiotic prophase, where they could remain for extended periods until they left the resting pool [ 21 ]. Primary, secondary, and antral follicles progressively increased in size and were distinguished by the accumula... | Main findings | null | 2026-03-21T07:16:11.328382800Z | null | null |
37595d42-ef4e-49c3-98fb-9adcf00393b7 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 17 | 391 | This study represented the first external validation of the exploratory analysis performed by Lambertini et al. [ 8 ]. To overcome the limits of Lambertini et al. [ 8 ], we included only a population of women with a recent diagnosis of breast cancer who had not undergone any type of oncological treatment. Moreover, our... | Strengths and limitations | null | 2026-03-21T07:16:11.328384300Z | null | null |
44c7ccbd-db42-441d-abab-330961211d80 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 18 | 84 | Although a different trend in follicular density was noted between women with and without BRCA1/BRCA2 mutations, this variation did not reach statistical significance. Our results indicate that the presence of a BRCA mutation does not appear to exert a significant negative clinical impact on the follicular population o... | Conclusion | null | 2026-03-21T07:16:11.328385200Z | null | null |
380d186d-c70a-4428-b4e0-3486131de9a6 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 19 | 95 | Supplementary Material 1: Supplementary Table 1. Age-adjusted follicular density (n/mm 2 ) by BRCA1 and BRCA2 mutation status. Supplementary Material 2: Supplementary Table 2. Distribution of pathogenic variants in BRCA1- and BRCA2-mutated women Supplementary Material 3: Supplementary Table 3. Age-adjusted follicular d... | Supplementary Information | null | 2026-03-21T07:16:11.328386400Z | null | null |
5b73076c-da2a-46f9-b7ec-6726d8462503 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 20 | 3 | Not applicable. | Acknowledgements | null | 2026-03-21T07:16:11.328387Z | null | null |
5bc60a27-61b7-4a8f-9db1-f7a463608631 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 21 | 115 | All the authors contributed to the present manuscript as follows: M. M. Conceptualization, Investigation, Methodology, Investigation, Writing—Review & Editing, Project administration. R. V. Formal analysis, Writing—Review & Editing. C. F. Conceptualization, Investigation. S. Di S. Conceptualization, Investigation. J. L... | Authors’ contributions | null | 2026-03-21T07:16:11.328388400Z | null | null |
336062f6-9d08-4ee0-a877-589a1fe36c05 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 22 | 20 | The work reported in this publication was funded by the Italian Ministry of Health, RC-2025-2796965. | Funding | null | 2026-03-21T07:16:11.328389300Z | null | null |
c7c517fe-802e-4f63-848b-229d9e71ab77 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 23 | 18 | The data of this study are available at the following link: https://zenodo.org/records/14681137 . | Data availability | null | 2026-03-21T07:16:11.328390Z | null | null |
b6192182-db13-486a-afdf-723513890537 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 24 | 56 | The study received approval from the Institutional Review Board (Comitato Etico Area Vasta Emilia Centro 320/2021/Oss/AOUBo) and was carried out in accordance with the Helsinki Declaration. All patients signed an informed consent for the use of their anonymized data for the study. | Ethics approval and consent to participate | null | 2026-03-21T07:16:11.328391300Z | null | null |
131e38e6-02b0-47fe-88de-8ef482e40861 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 25 | 22 | All patients signed an informed consent for the use of their anonymized data for the publication. | Consent for publication | null | 2026-03-21T07:16:11.328392700Z | null | null |
0c956a16-40c2-4643-914a-3297ef8e2342 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 26 | 8 | The authors declare no competing interests. | Competing interests | null | 2026-03-21T07:16:11.328393400Z | null | null |
94979ebf-145b-4104-b823-a8ba99e2324c | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 27 | 23 | Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. | Footnotes | null | 2026-03-21T07:16:11.328395Z | null | null |
b9ba2ade-a283-464c-8673-a335783ae748 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 28 | 95 | Supplementary Material 1: Supplementary Table 1. Age-adjusted follicular density (n/mm 2 ) by BRCA1 and BRCA2 mutation status. Supplementary Material 2: Supplementary Table 2. Distribution of pathogenic variants in BRCA1- and BRCA2-mutated women Supplementary Material 3: Supplementary Table 3. Age-adjusted follicular d... | Supplementary Materials | null | 2026-03-21T07:16:11.328395800Z | null | null |
8563883c-8f20-4624-8087-1bbb253ac257 | 8d1c6a25-f109-4095-882d-7b3b4d9708d8 | 29 | 18 | The data of this study are available at the following link: https://zenodo.org/records/14681137 . | Data Availability Statement | null | 2026-03-21T07:16:11.328397600Z | null | null |
de589672-4c20-4111-a0ce-bc4d3e69cd88 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 0 | 15 | Hereditary ovarian cancer in women with African ancestry: a scoping review. | Title | null | 2026-03-21T07:16:11.680592800Z | null | null |
3679d0a0-5fc6-408b-9afd-97af5a6c23f2 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 1 | 340 | This scoping review explored genetic variants associated with hereditary ovarian cancer in women of African ancestry. Around 20% of ovarian cancers are hereditary, with BRCA1 and BRCA2 variants accounting for 20–55% of these cases, while other implicated genes include BRIP1, ATM, RAD51C, RAD51D , and the Lynch syndrome... | Abstract | null | 2026-03-21T07:16:11.680596900Z | null | null |
03676f9c-761e-483c-bad6-1f4d812d6663 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 2 | 510 | Ovarian cancer refers broadly to cancers that begin in the cells of the ovary, fallopian tubes, or peritoneum (the serous membrane that covers the uterus, bladder, rectum, ovaries, and fallopian tubes) [ 1 ]. An earlier diagnosis has a better prognosis, but globally less than 20% of women with ovarian cancer are diagno... | Introduction | null | 2026-03-21T07:16:11.680598800Z | null | null |
94a218bd-46b7-4677-bca3-fe3339269b1a | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 3 | 510 | cancer syndromes, several other genes have been implicated. These include Checkpoint Kinase 2 ( CHEK2 ), BRCA1 Interacting Protein C-Terminal Helicase 1 ( BRIP1 ), Ataxia-Telangiectasia Mutated ( ATM ), RAD51 Paralog C ( RAD51C ), RAD51 Paralog D ( RAD51D ), and MutS Homolog 6 ( MSH6 ) Less frequently reported genes in... | Introduction | null | 2026-03-21T07:16:11.680600100Z | null | null |
e623b618-81c9-46ca-a79a-db61fbf2f305 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 4 | 510 | [ 13 ]. This was due to the release of new drugs called inhibitors of poly-(ADP-ribose) polymerase (PARP inhibitors), which showed improved survival rates in BRCA- positive patients with ovarian cancer [ 14 ]. Whilst the international recommendation is to test all women with ovarian cancer [ 15 ], genetic testing is co... | Introduction | null | 2026-03-21T07:16:11.680601400Z | null | null |
ad2b225a-239e-4f78-b1d0-14b666a56089 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 5 | 132 | PubMed, the Cochrane Database of Systematic Reviews, JBI Evidence Synthesis, and Open Science Framework was conducted and no current or underway systematic reviews or scoping reviews on hereditary ovarian cancers in women with African ancestry were identified. The objective of this scoping review was to identify and su... | Introduction | null | 2026-03-21T07:16:11.680603100Z | null | null |
e2752e76-4bc2-4efb-949c-3f3e52df67a1 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 6 | 19 | What genes have been associated with hereditary ovarian cancer in women with African ancestry? | Review question | null | 2026-03-21T07:16:11.680603900Z | null | null |
e0207aa4-d01e-422a-975d-26a30da98c72 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 7 | 267 | The genetic aetiology of ovarian cancer has been widely reported in patients with European ancestry. The focus of this review was to identify studies that included women with African ancestry and ovarian cancer, or a family history of ovarian cancer, who underwent germline genetic testing. Studies that involved patient... | Inclusion and exclusion criteria | null | 2026-03-21T07:16:11.680605200Z | null | null |
f5029d2e-47b6-42f6-881f-abe6f4a7bb47 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 8 | 239 | A three-step search strategy was utilized in this review. An initial limited search of PubMed was undertaken to identify articles on the topic. The text words contained in the titles and abstracts of relevant articles, and the index terms used to describe the articles were used to develop a full search strategy for all... | Search strategy | null | 2026-03-21T07:16:11.680606200Z | null | null |
a434da4f-4c8b-4f36-8327-7a1a6b86321a | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 9 | 166 | Following the search, all identified citations were collated and uploaded into Mendeley Reference Manager version 2.100.0 2023 and duplicates removed. Titles and abstracts were screened by two independent reviewers (BR and MA) for assessment against the inclusion criteria for the review. Potentially relevant sources we... | Screening and selection | null | 2026-03-21T07:16:11.680607200Z | null | null |
1ebf8698-a6c1-4525-8273-dbc5139bd85f | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 10 | 72 | Data was extracted from all included articles (BR) using a data extraction tool developed by the authors. The data extracted included specific details about the patients, whether any risk factors were considered before genetic testing was offered, the type of genetic testing done, genetic test results, and tumour histo... | Data extraction | null | 2026-03-21T07:16:11.680607900Z | null | null |
96c18f52-c156-4b49-a0e8-8dbf3b70f17e | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 11 | 312 | A total of 1095 papers were identified using the search strategy. After title and abstract screening, 923 papers were excluded due to ineligibility. Three papers could not be retrieved for full-text review and a further 143 papers were excluded after full-text review. The main reasons for excluding studies included ine... | Study inclusion | null | 2026-03-21T07:16:11.680608800Z | null | null |
6f9360b5-97f9-4e46-ad01-20e793395837 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 12 | 308 | Thirty studies were included in this scoping review. The supplementary information (online resource 2 ) contains a table of study characteristics. The majority were performed in the United States of America (USA) (14/30) and North Africa (13/30). Two studies were conducted in South Africa, and one study was conducted i... | Characteristics of studies | null | 2026-03-21T07:16:11.680609800Z | null | null |
fecffb86-f820-40b9-8e54-aa8137061c96 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 13 | 510 | Twenty-five studies included patients who had been offered genetic testing based on meeting high-risk criteria of having a hereditary cancer syndrome. The criteria applied varied across studies, but most considered a young age of onset and a family history of breast and/or ovarian cancer. Only four studies [ 27 – 30 ] ... | Genetic testing outcomes in ovarian cancer patients with African ancestry | null | 2026-03-21T07:16:11.680611Z | null | null |
bc6e308c-2aab-44a9-b4d3-7c0b37647826 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 14 | 378 | had a documented family history of ovarian cancer. Disease-causing variants in BRCA1 and BRCA2 account for 92% of the variants reported in the included studies. Other reported genes include BARD1, CHEK2, EP300 lysine acetyltransferase ( EP300 ), nth like DNA glycosylase 1 ( NTHL1 ) , PALB2, PMS2 and TP53 (Fig. 3 ). Ben... | Genetic testing outcomes in ovarian cancer patients with African ancestry | null | 2026-03-21T07:16:11.680612100Z | null | null |
1fd1b2ba-cf42-4afb-8ba5-1b6df7e2a71d | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 15 | 510 | To the best of our knowledge, this is the first scoping review focusing on the genetic aetiology of ovarian cancer in women with African ancestry. Only 30 publications met the inclusion criteria and most of these (14/30) were conducted in the USA, on African American women. Patients with African ancestry represented a ... | Limited studies available that include African cohorts | null | 2026-03-21T07:16:11.680613900Z | null | null |
6a0956dd-8d69-457b-a553-985f9f697ba8 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 16 | 200 | Addressing these barriers requires targeted efforts to increase awareness, streamline referral pathways, and promote equitable inclusion in research. Africa is a large and genetically diverse continent which makes it critical for genetic studies to include cohorts from across the continent. North Africans are genetical... | Limited studies available that include African cohorts | null | 2026-03-21T07:16:11.680615100Z | null | null |
5a2ad980-ca72-403f-92e9-f465b94d7620 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 17 | 510 | The review highlights the overreliance on BRCA1 and BRCA2 testing (Fig. 2 ). While these genes are central to hereditary ovarian cancer globally, there are other prevalent high and moderate risk genes associated with ovarian cancer, such as BRIP1, ATM, PALB2 , RAD51C, RAD51D , CHEK2 , PMS2 , and TP53 [ 12 , 49 , 50 ]. ... | Patients with African ancestry have limited access to broad-based genetic testing approaches | null | 2026-03-21T07:16:11.680616100Z | null | null |
f20c29b2-7b50-46f9-9e60-b5e4faa44fff | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 18 | 496 | with ovarian cancer. This motivates the need to expand genetic testing to expand our knowledge on the spectrum of variants and their contributions to hereditary ovarian cancer in patients with African ancestry. In addition, the lack of diversity in genetic research studies limits the accuracy of variant interpretation,... | Patients with African ancestry have limited access to broad-based genetic testing approaches | null | 2026-03-21T07:16:11.680617300Z | null | null |
80d9eea8-8d63-42b8-af17-33d534a5d87c | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 19 | 510 | A major barrier to drawing meaningful clinical insights from this dataset was the inconsistent reporting. A limitation noted across many studies was the poor linkage of patient characteristics to genetic test results. Forty-two publications were excluded due to incomplete information. While these studies referenced Afr... | Incomplete information and inconsistent reporting noted across studies | null | 2026-03-21T07:16:11.680618200Z | null | null |
56d56f5e-7cff-4cf9-89cb-9231b2a2a74e | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 20 | 146 | studies will support the translation of clinical research and incorporation of results into clinical guidelines. As a start, we recommend that all cancer genetic studies should strive to include the following information where possible: patient ethnicity, age at diagnosis, cancer type, and genetic test results. Where r... | Incomplete information and inconsistent reporting noted across studies | null | 2026-03-21T07:16:11.680619300Z | null | null |
237db82a-9c2f-4f0a-8cfe-623b3694f875 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 21 | 358 | This review highlights the limited scope of research on hereditary ovarian cancer, particularly in patients with African ancestry. Limited knowledge exists on the genetic aetiology and epidemiology of ovarian cancer in patients with African ancestry, and this should become a primary research focus. This is required so ... | Conclusion | null | 2026-03-21T07:16:11.680620800Z | null | null |
7881f1b0-b0ef-486e-951d-4ffa27c8d250 | dc8d2990-825e-4a26-b7ac-64a18312d5b7 | 22 | 24 | Below is the link to the electronic supplementary material. Supplementary Material 1 Supplementary Material 2 Supplementary Material 3 | Supplementary Information | null | 2026-03-21T07:16:11.680621600Z | null | null |
1ed8fab5-99e5-430f-946a-cc7a4fb56a6d | c398c702-9466-435f-a148-f2b9f925ca10 | 0 | 12 | Quantifying rate-limiting genetic variation in breast and ovarian tumourigenesis | Title | null | 2026-03-21T07:16:11.931439700Z | null | null |
66c169de-83b8-4cde-81c9-0bf7c0cf23dc | c398c702-9466-435f-a148-f2b9f925ca10 | 1 | 338 | The number and type of genetic alterations required to initiate breast and ovarian cancer remain unclear. While germline BRCA1/2 carriers show markedly elevated cancer risk, it is uncertain whether point mutations or copy number alterations constitute the rate-limiting events of tumourigenesis. We developed a statistic... | Abstract | null | 2026-03-21T07:16:11.931444700Z | null | null |
e2db20c3-cce5-4797-94e1-4ea782d94fc6 | c398c702-9466-435f-a148-f2b9f925ca10 | 2 | 30 | Classical multi-hit models and sequencing studies emphasize point mutations, but the role of copy number variations as tumour-initiating events was poorly defined. | Evidence before this study | null | 2026-03-21T07:16:11.931446200Z | null | null |
8b917414-7c71-4c0c-b709-80be0dc38b85 | c398c702-9466-435f-a148-f2b9f925ca10 | 3 | 38 | By integrating theoretical modeling, bulk sequencing, and single-cell analyses, we show that genomic deletions are the likely rate-limiting events in BRCA1/2 -driven and sporadic breast and ovarian cancers. | Added value of this study | null | 2026-03-21T07:16:11.931447300Z | null | null |
c77dbc09-c8e2-4ec9-97e0-7f1a90661979 | c398c702-9466-435f-a148-f2b9f925ca10 | 4 | 72 | Deletions explains the heightened risks of BRCA1/2 carriers and consistently arise as early, recurrent events across datasets and models, reshaping our understanding of tumour initiation. These findings highlight deletions as critical biomarkers for risk stratification and precision prevention, and challenge the suffic... | Implications of all the available evidence | null | 2026-03-21T07:16:11.931448700Z | null | null |
5befe343-c43d-411d-946c-d6ea69d75295 | c398c702-9466-435f-a148-f2b9f925ca10 | 5 | 510 | Cancer arises through the accumulation of somatic mutations, 1 , 2 but the specific types of genomic variation and number of molecular alterations required for tumour initiation remain unclear. Several studies have identified accumulations of cancer-associated mutations in normal tissues, 3 , 4 including in epithelial ... | Introduction | null | 2026-03-21T07:16:11.931450800Z | null | null |
133b2334-4162-42d8-b1b3-134db39a697e | c398c702-9466-435f-a148-f2b9f925ca10 | 6 | 332 | SNVs were required for both diseases. Carriers of pathogenic germline BRCA1 and BRCA2 variants are strongly predisposed to cancers in multiple organs, including prostate, pancreatic, breast and ovarian cancer. 19 , 20 , 21 Similar to lung tumours in smokers and MSI colorectal tumours–tumours in BRCA1 and BRCA2 carriers... | Introduction | null | 2026-03-21T07:16:11.931453300Z | null | null |
c7ef10c8-7701-43af-a24e-ec926aa5bcaa | c398c702-9466-435f-a148-f2b9f925ca10 | 7 | 87 | Patients with pathogenic variants in BRCA1 and BRCA2 were identified by the TCGA PanCanAtlas Germline project. 34 These patients did not have pathogenic germline variants in established HRD-related genes, including ATM , CHEK2 , PALB2 , BARD1 , RAD51C , RAD51D , and ATR . To avoid confounding of germline and somatic di... | TCGA germline | null | 2026-03-21T07:16:11.931454400Z | null | null |
2bb3282c-db55-4372-a7ad-cfa7256b41e9 | c398c702-9466-435f-a148-f2b9f925ca10 | 8 | 147 | We downloaded the public MAF somatic mutation call file from the TCGA PanCanAtlas MC3 project 37 that conducted using a variety of variant calling tools. We then filtered the file to retain only non-synonymous mutations (in one of these types: “Missense_Mutation”, “Nonsense_Mutation”, “Splice_Site”, “Translation_Start_... | TCGA sample somatic mutation rate | null | 2026-03-21T07:16:11.931455600Z | null | null |
41a7917e-26fd-4594-9e70-e8196733282a | c398c702-9466-435f-a148-f2b9f925ca10 | 9 | 88 | We downloaded the ABSOLUTE-annotated seg file from the TCGA PanCanAtlas Aneuploidy project 40 ( https://gdc.cancer.gov/about-data/publications/pancan-aneuploidy ). SCNA burden was calculated as both the number of distinct segments and the number of base-pairs involved in a SCNA. Both measures were normalized by the age... | TCGA sample copy-number variation rate | null | 2026-03-21T07:16:11.931456800Z | null | null |
229d0f27-9729-44e1-bafe-2cc52337c185 | c398c702-9466-435f-a148-f2b9f925ca10 | 10 | 107 | We downloaded the public MAF somatic mutation call file from the TCGA PanCanAtlas MC3 project 37 that leveraged a variety of variant calling tools, including Mutect, Somatic Sniper, Varscan and Pindel, as previously described. We then filtered the file to retain only small insertions and deletions. The INDEL burden is ... | TCGA sample small INDEL mutation rate | null | 2026-03-21T07:16:11.931458900Z | null | null |
2be3457e-c04a-4ef7-a795-d0511e82c841 | c398c702-9466-435f-a148-f2b9f925ca10 | 11 | 35 | Patients with pathogenic germline variants, defined as non-synonymous, frameshift, stop/gain or impacting splicing, in BRCA1 and BRCA2 were identified in 1980 breast tumours from METABRIC. 41 | METABRIC | null | 2026-03-21T07:16:11.931460Z | null | null |
e64fdf20-0d58-4c34-904f-4b566c41b889 | c398c702-9466-435f-a148-f2b9f925ca10 | 12 | 51 | Somatic single nucleotide variants were detected from targeted sequencing of 173 genes as described previously. 42 The mutation rate is calculated as the number of non-synonymous mutations divided by the age at the initial diagnosis for each sample. | METABRIC sample somatic mutation rate | null | 2026-03-21T07:16:11.931460700Z | null | null |
f1ae844b-a4a0-4f10-9ec4-f102df8701a2 | c398c702-9466-435f-a148-f2b9f925ca10 | 13 | 83 | Copy number segments were identified from Affymetrix SNP 6.0 as described previously. 41 SCNA burden was calculated two ways: the number of base-pairs or the number of genes involved in a SCNA. Both measures were normalized by the age of initial diagnosis for each sample. Altered bases and genes were further categorize... | METABRIC sample copy-number variation rate | null | 2026-03-21T07:16:11.931461500Z | null | null |
d03f4893-90af-41e7-a359-6edad9f20067 | c398c702-9466-435f-a148-f2b9f925ca10 | 14 | 164 | We performed an extensive literature search for standardized incidence ratios (SIRs) for both breast and ovarian cancer amongst carriers of BRCA1 and BRCA2 . We utilized SIR estimates derived by Kuchenbaecker et al. for a variety of reasons. 43 The multinational cohort used to calculate these SIRs was the largest among... | Standardized incidence ratios for breast and ovarian cancer | null | 2026-03-21T07:16:11.931463100Z | null | null |
962eba98-7d4d-432b-a644-57062d348067 | c398c702-9466-435f-a148-f2b9f925ca10 | 15 | 510 | We estimated the incidence ratio using a framework proposed by Tomasetti et al. 9 Briefly, Tomasetti et al. showed there is a power relationship between cancer incidence and the number of rate-limiting mutational events for the initiation of a cancer subgroup and the average mutation rate of the cancer subgroup. 9 For ... | Incidence ratio estimation | null | 2026-03-21T07:16:11.931465Z | null | null |
12ae5538-5f4b-418d-8bff-2993771e024b | c398c702-9466-435f-a148-f2b9f925ca10 | 16 | 420 | tumour clonal expansion, 45 the incidence ratio prediction becomes: x · x ( λ 1 λ 1 ) · x ( λ 1 λ 2 ) . . . · x ( λ 1 λ ( n − 1 ) ) where: λ 1 λ 2 = 1 2 , λ 1 λ 3 = 1 3 , e t c ; x represents the relative mutation rate between two groups, such as BRCA1 carriers and non-carriers. The λ terms describe the relative growth... | Incidence ratio estimation | null | 2026-03-21T07:16:11.931466400Z | null | null |
d8138ec0-f833-45d6-b058-509e2f6ebad6 | c398c702-9466-435f-a148-f2b9f925ca10 | 17 | 239 | We leveraged mutational timing estimates from Gerstung et al. 33 Briefly, for 28 and 26 recurrent somatic events (defined as occurring in >5% of samples) in breast and ovarian cancer, respectively, Gerstung et al. generated a discrete multinomial distribution based on pairwise probabilities one mutation occurs before a... | Mutational timing analysis | null | 2026-03-21T07:16:11.931467700Z | null | null |
20f6fda7-cdb8-4861-a5a4-43703c7443ca | c398c702-9466-435f-a148-f2b9f925ca10 | 18 | 179 | To generate the SCNA frequency maps of BRCA1 , BRCA2 , and non-carrier tumours, TCGA SNP array data was downloaded from the GDC repository ( https://dcc.icgc.org/releases ) genome version GRCh38. Data category ‘Masked Copy Number Segment’ derived from SNP6.0 genotyping arrays. SCNA frequency maps are generated using th... | SCNA frequency maps | null | 2026-03-21T07:16:11.931469100Z | null | null |
59e70e12-bea3-4371-a1cb-07ded2d8426a | c398c702-9466-435f-a148-f2b9f925ca10 | 19 | 510 | We analyzed three distinct datasets from Funnell, T. et al. 49 that conducted single-cell whole genome sequencing (scWGS) on genetically engineered Mammary Epithelial Cells, triple-negative breast cancer (TNBC), and High-Grade Serous Ovarian Cancer (HGSC) datasets. The 184-hTERT Mammary Epithelial Cells datasets includ... | Single-cell whole genome sequencing (scWGS) datasets and analyses | null | 2026-03-21T07:16:11.931470400Z | null | null |
f13e878e-5382-4cdf-928a-ba120408cc66 | c398c702-9466-435f-a148-f2b9f925ca10 | 20 | 510 | in BRCA1 and BRCA2 carriers show an increased mutation rate (bp/year) compared to non-carrier (WT) individuals. Dot size and colour reflect β magnitude and direction from linear regression correcting for stage, grade and subtype. Background shading indicates FDR. Covariate along the top indicates gene and cancer type. ... | Single-cell whole genome sequencing (scWGS) datasets and analyses | null | 2026-03-21T07:16:11.931472100Z | null | null |
7b58488c-0c9d-4e35-b193-23a8115db060 | c398c702-9466-435f-a148-f2b9f925ca10 | 21 | 191 | and SNV distributions across groups or phenotypes. P values were adjusted for multiple testing using the BH procedure for FDR. Additionally, a total of 15 luminal breast epithelial samples from Williams et al. 50 were included for analysis as these samples had allele-specific copy number estimates. These comprised beni... | Single-cell whole genome sequencing (scWGS) datasets and analyses | null | 2026-03-21T07:16:11.931473Z | null | null |
2f7b359a-58bd-4742-a96e-3e724c7dae8f | c398c702-9466-435f-a148-f2b9f925ca10 | 22 | 492 | Seurat objects of single-cell RNA-seq data were obtained from human breast tissue from 21 patients with no history of cancer treatment as previously described. 49 , 51 This scRNA-Seq dataset was generated with the 10× Genomics Chromium platform and an Illumina NextSeq sequencer. The samples were taken from patients at ... | Single-cell RNA-seq (scRNA-Seq) dataset and analysis | null | 2026-03-21T07:16:11.931475100Z | null | null |
1ec327aa-2d5e-4d75-9f01-b696efceffac | c398c702-9466-435f-a148-f2b9f925ca10 | 23 | 308 | We extended the incidence–mutation framework used in the main analysis to quantify uncertainty around the required number of driver events (k) and to evaluate operating characteristics (“power”) under current sample sizes. For each scenario ( e.g. , SNVs, SCNAs, deletions) and stratum (BRCA1/2 in breast/ovary), we perf... | Quantification of uncertainty and operating characteristics | null | 2026-03-21T07:16:11.931476Z | null | null |
6f8babd1-1336-4cb3-84fd-9b2ad152e832 | c398c702-9466-435f-a148-f2b9f925ca10 | 24 | 27 | Visualizations were generated in the R statistical environment (v3.3.1) with the lattice (v0.24–30), latticeExtra (v0.6–28) and BPG (v5.6.23) packages. 53 | Data visualization | null | 2026-03-21T07:16:11.931476800Z | null | null |
075069f7-cebb-4a8f-9d32-3a1fa1defd58 | c398c702-9466-435f-a148-f2b9f925ca10 | 25 | 143 | All data analyzed in this study were obtained from publicly available resources. Germline BRCA1/2 variant calls and somatic mutation data for The Cancer Genome Atlas (TCGA) Pan-Cancer Atlas and METABRIC were accessed through the Genomic Data Commons and the PanCanAtlas Germline Project, with germline data obtained unde... | Ethics | null | 2026-03-21T07:16:11.931478100Z | null | null |
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