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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 dataset

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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
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2026-03-21T07:16:11.328389300Z
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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
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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
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2026-03-21T07:16:11.328391300Z
null
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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
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2026-03-21T07:16:11.328392700Z
null
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0c956a16-40c2-4643-914a-3297ef8e2342
8d1c6a25-f109-4095-882d-7b3b4d9708d8
26
8
The authors declare no competing interests.
Competing interests
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2026-03-21T07:16:11.328393400Z
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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
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b9ba2ade-a283-464c-8673-a335783ae748
8d1c6a25-f109-4095-882d-7b3b4d9708d8
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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
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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
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2026-03-21T07:16:11.328397600Z
null
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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
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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
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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
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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
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2026-03-21T07:16:11.680603100Z
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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
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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
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2026-03-21T07:16:11.680608800Z
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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
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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
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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
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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
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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
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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
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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
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2026-03-21T07:16:11.931478100Z
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null
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