Tumour spectrum in non-BRCA hereditary breast cancer families in Sweden
Open accessAbstract
BACKGROUND: Approximately 30 % of all breast cancer is at least partly attributed to hereditary factors. Familial breast cancer is often inherited in the context of cancer syndromes. The most commonly mutated genes are BRCA1 and BRCA2 in hereditary breast and ovarian cancer syndrome. The genetic background in families with hereditary breast cancer without predisposing germ line mutations in BRCA1 and BRCA2 (non-BRCA families) is still to a large extent unclear even though progress has been made. The aim of this study was to compare cancer proportions in familial non-BRCA hereditary breast cancer compared to the general population in search of putative new breast cancer syndromes. METHODS: Pedigrees from 334 non-BRCA hereditary breast cancer families in the county of Stockholm, Sweden, were investigated and the distribution of cancer diagnoses other than breast cancer was compared with the distribution of cancer diagnoses in the general Swedish population in two reference years, 1970 and 2010. A cancer diagnosis was regarded as overrepresented in the non-BRCA families if the confidence interval was above both population reference values. RESULTS: We found that endometrial cancer was overrepresented in the non-BRCA families with a 6.36 % proportion (CI 4.67-8.2) compared to the proportion in the general population in the reference years 1970 (3.07 %) and 2010 (2.64 %). Moreover tumours of the ovary, liver, pancreas and prostate were overrepresented. CONCLUSION: In conclusion, we found an overrepresentation of endometrial cancer in our cohort of hereditary non-BRCA families. Our result supports previous inconsistent reports of a putative breast and endometrial cancer syndrome. An association has been suggested in studies of families with several cases of breast cancer in close relatives or bilateral breast cancer. To clarify this issue we suggest further studies on a breast and endometrial cancer syndrome in cohorts with a strong pattern of hereditary breast cancer. Identifying new breast cancer syndromes is of importance to improve genetic counselling for women at risk and a first step towards detection of new susceptibility genes.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Even in families affected by HBOC with no BRCA2 or BRCA1 mutation, the risk of pancreatic ductal adenocarcinoma is greatly elevated.
“Even in families affected by HBOC with no BRCA2 (or BRCA1) mutation, the risk of pancreatic ductal adenocarcinoma is greatly elevated.35”
From Early detection of pancreatic cancer (2020) · cites this paper as [35]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Nishimura, R., Osako, T., Nishiyama, Y., Tashima, R., Nakano, M., Fujisue, M., Toyozumi, Y., & Arima, N. (2013) · Oncology · doi:10.1159/000353099 · Cited by 13,239 · see citing works
RUBIN, D. B. (1976) · Biometrika · doi:10.1093/biomet/63.3.581 · Cited by 9,925 · see citing works
A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
Miki, Y., Swensen, J. J., Shattuck-Eidens, D. M., Futreal, P. A., Harshman, K., Tavtigian, S. V., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., et al. (1994) · Science · doi:10.1126/science.7545954 · Cited by 6,069 · see citing works
Lichtenstein, P., Holm, N. V., Verkasalo, P. K., Iliadou, A., Kaprio, J., Koskenvuo, M., Pukkala, E., Skytthe, A., & Hemminki, K. (2000) · New England Journal of Medicine · doi:10.1056/nejm200007133430201 · Cited by 4,114 · see citing works
Beighton, P., & Beighton, G. (1997) · Springer eBooks · doi:10.1007/978-1-4471-0925-9_118 · Cited by 3,165 · see citing works
Early Breast Cancer Trialists' Collaborative Group (EBCTCG) (2011) · The Lancet · doi:10.1016/s0140-6736(11)60993-8 · Cited by 3,075 · see citing works
Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
Hall, J., Lee, M. K., Newman, B. M., Morrow, J. E., Anderson, L. A., Huey, B., & King, M. (1990) · Science · doi:10.1126/science.2270482 · Cited by 2,544 · see citing works
Localization of a Breast Cancer Susceptibility Gene, BRCA2 , to Chromosome 13q12-13
Wooster, R., Neuhausen, S. L., Mangion, J., Quirk, Y., Ford, D., Collins, N., Nguyen, K. N., Seal, S., Tran, T. D., Averill, D., et al. (1994) · Science · doi:10.1126/science.8091231 · Cited by 1,918 · see citing works
Saam, J. R., Arnell, C., Theisen, A. P., Moyes, K., Marino, I., Roundy, K. M., & WENSTRUP, R. J. (2015) · Oncology · doi:10.1159/000437307 · Cited by 1,533 · see citing works
The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104 · see citing works
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Michailidou, K., kConFab Investigators, Australian Ovarian Cancer Study Group, The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Hall, P. N., González‐Neira, A., Ghoussaini, M., Dennis, J., Milne, R. L., Schmidt, M. K., et al. (2013) · Nature Genetics · doi:10.1038/ng.2563 · Cited by 1,066 · see citing works
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,002 · see citing works
ADJUVANT TAMOXIFEN IN EARLY BREAST CANCER: OCCURRENCE OF NEW PRIMARY CANCERS
Fornander, T., Cedermark, B., Mattsson, A., Skoog, L. K., Theve, T., Askergren, J., Rutqvist, L., Glas, U., Silfverswärd, C., Somell, A., et al. (1989) · The Lancet · doi:10.1016/s0140-6736(89)91141-0 · Cited by 919 · see citing works
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.
Peto, J., Collins, N., Barfoot, R., Seal, S., Warren, W., Rahman, N., Easton, D., Evans, C., Deacon, J., & Stratton, M. R. (1999) · Journal of the National Cancer Institute · doi:10.1093/jnci/91.11.943 · Cited by 909 · see citing works
Breast-Cancer Risk in Families with Mutations in PALB2
Antoniou, A. C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., Lee, A., Subramanian, D., Leeneer, K. D., Fostira, F., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1400382 · Cited by 853 · see citing works
The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746 · see citing works
Pharoah, P. D. P., Guilford, P., & Caldas, C. H. (2001) · Gastroenterology · doi:10.1053/gast.2001.29611 · Cited by 639 · see citing works
Anglian Breast Cancer Study Group (2000) · British Journal of Cancer · doi:10.1054/bjoc.2000.1407 · Cited by 602 · see citing works
Deitch, R. (1981) · The Lancet · doi:10.1016/s0140-6736(81)91281-2 · Cited by 544 · see citing works
Cancer Risks and Mortality in Heterozygous ATM Mutation Carriers
Thompson, D. J., Duedal, S., Kirner, J., McGuffog, L., Last, J. I. K., Reiman, A., Byrd, P. J., Taylor, A. M. R., & Easton, D. F. (2005) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/dji141 · Cited by 543 · see citing works
High Cancer Risk in Peutz–Jeghers Syndrome: A Systematic Review and Surveillance Recommendations
van Lier, M. G., Wagner, A., Mathus-Vliegen, E. M. H., Kuipers, E. J., Steyerberg, E. W., & van Leerdam, M. E. (2010) · The American Journal of Gastroenterology · doi:10.1038/ajg.2009.725 · Cited by 541 · see citing works
Adjuvant Tamoxifen Therapy for Early Stage Breast Cancer and Second Primary Malignancies
Rutqvist, L. E., Johansson, H., Signomklao, T., Johansson, U., Fornander, T., & Wilking, N. (1995) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/87.9.645 · Cited by 508 · see citing works
<i>ATM</i> Mutations in Patients with Hereditary Pancreatic Cancer
Roberts, N. J., Jiao, Y., Yu, J., Kopelovich, L., Petersen, G. M., Bondy, M. L., Gallinger, S., Schwartz, A. G., Syngal, S., Cote, M. L., et al. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-11-0194 · Cited by 491 · see citing works
The emerging landscape of breast cancer susceptibility
Stratton, M. R., & Rahman, N. (2008) · Nature Genetics · doi:10.1038/ng.2007.53 · Cited by 487 · see citing works
A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer
Vahteristo, P., Bártková, J., Eerola, H., Syrjäkoski, K., Ojala, S., Kilpivaara, O., Tamminen, A., Kononen, J., Aittomäki, K., Heikkilä, P., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341943 · Cited by 467 · see citing works
Mutations in BRIP1 confer high risk of ovarian cancer
Rafnar, Þ., Gudbjartsson, D. F., Sulem, P., Jónasdóttir, Á., Sigurðsson, Á., Jónasdóttir, A., Besenbacher, S., Lundin, P., Stacey, S., Guðmundsson, J., et al. (2011) · Nature Genetics · doi:10.1038/ng.955 · Cited by 406 · see citing works
Brinton, L. A., Berman, M. L., Mortel, R., Twiggs, L. B., Barrett, R. J., Wilbanks, G. D., Lannom, L., & Hoover, R. N. (1992) · American Journal of Obstetrics and Gynecology · doi:10.1016/s0002-9378(11)91709-8 · Cited by 379 · see citing works
AGE AT ONSET AS AN INDICATOR OF FAMILIAL RISK OF BREAST CANCER
Claus, E. B., RISCH, N. J., & Thompson, W. D. (1990) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a115616 · Cited by 369 · see citing works
TOMLINSON, I. P. M., & Houlston, R. S. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.12.1007 · Cited by 335 · see citing works
Weischer, M., Bojesen, S. E., Ellervik, C., Tybjærg‐Hansen, A., & Nordestgaard, B. G. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2007.12.5922 · Cited by 307 · see citing works
Models of genetic susceptibility to breast cancer
Antoniou, A. C., & Easton, D. F. (2006) · Oncogene · doi:10.1038/sj.onc.1209879 · Cited by 303 · see citing works
The Genetic Epidemiology of Breast Cancer Genes
Thompson, D. J., & Easton, D. F. (2004) · Journal of Mammary Gland Biology and Neoplasia · doi:10.1023/b:jomg.0000048770.90334.3b · Cited by 257 · see citing works
PALB2/FANCN: Recombining Cancer and Fanconi Anemia
Tischkowitz, M. D., & Xia, B. (2010) · Cancer Research · doi:10.1158/0008-5472.can-10-1012 · Cited by 196 · see citing works
The Incidence of Lynch Syndrome
de la Chapelle, A. (2005) · Familial Cancer · doi:10.1007/s10689-004-5811-3 · Cited by 187 · see citing works
Risk of breast cancer in Lynch syndrome: a systematic review
Win, A. K., Lindor, N. M., & Jenkins, M. A. (2013) · Breast Cancer Research · doi:10.1186/bcr3405 · Cited by 129 · see citing works
Farooq, A., Walker, L. J., Bowling, J., & Audisio, R. A. (2010) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2010.04.002 · Cited by 128 · see citing works
Epidemiology of breast cancer: an environmental disease?Note
Sasco, A. J. (2001) · Apmis · doi:10.1034/j.1600-0463.2001.090501.x · Cited by 111 · see citing works
Tumor Variation in Families With Breast Cancer
Lynch, H. T. (1972) · JAMA · doi:10.1001/jama.1972.03210130023005 · Cited by 109 · see citing works
Familial breast cancer in southern Finland
Eerola, H., BLOMQVIST, C. P., Pukkala, ., Pyrhönen, S. O., & Nevanlinna, H. A. (2000) · European Journal of Cancer · doi:10.1016/s0959-8049(00)00093-9 · Cited by 103 · see citing works
Achatz, M. I., Hainaut, P. L., & Ashton‐Prolla, P. (2009) · The Lancet Oncology · doi:10.1016/s1470-2045(09)70089-0 · Cited by 76 · see citing works
Epidemiology of breast cancer in families in Iceland.
Tulinius, H., Sigvaldason, H., Ólafsdóttir, G., & Tryggvadóttír, L. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.3.158 · Cited by 55 · see citing works
The reliability of recollections of family history: implications for the medical provider.
Parent, M., Ghadirian, P., Lacroix, A., & Perret, C. (1997) · PubMed · doi:10.1080/08858199709528465 · Cited by 49 · see citing works
Familial effects of prostate and other cancers on lifetime breast cancer risk
Anderson, D. E., & Badzioch, M. D. (1993) · Breast Cancer Research and Treatment · doi:10.1007/bf00666423 · Cited by 34 · see citing works
Liang, S. X., Pearl, M., Shu, L., Li, X., Jia, L., Yang, B., Fadare, O., Schwartz, P. E., Chambers, S. K., Kong, B., et al. (2010) · International Journal of Cancer · doi:10.1002/ijc.25395 · Cited by 34 · see citing works
Age of onset in familial breast cancer as background data for medical surveillance
Brandt, A., Bermejo, J. L., Sundquist, J., & Hemminki, K. (2009) · British Journal of Cancer · doi:10.1038/sj.bjc.6605421 · Cited by 31 · see citing works
Family History of Breast, Ovarian and Endometrial Cancer and Risk of Breast Cancer
Parazzini, F., Vecchia, C. L., Negri, E., Franceschi, S., & Tozzi, L. (1993) · International Journal of Epidemiology · doi:10.1093/ije/22.4.614 · Cited by 31 · see citing works
BRCA1 Mutations in a Population-based Study of Breast Cancer in Stockholm County
Margolin, S., Werelius, B., Fornander, T., & Lindblom, A. (2004) · Genetic Testing · doi:10.1089/gte.2004.8.127 · Cited by 29 · see citing works
Self-citationKazerouni, N., Schairer, C., Friedman, H. B., Lacey, J. V., & Greene, M. H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.11.826 · Cited by 20 · see citing works
von Wachenfeldt, A., Lindblom, A., The South Swedish Oncogenetic Study Group, Grönberg, H., Einbeigi, Z., Rosenquist, R., Gardman, C., & Iselius, L. (2007) · Hereditary Cancer in Clinical Practice · doi:10.1186/1897-4287-5-1-17 · Cited by 15 · see citing works
Self-citationFamilial cancer among consecutive uterine cancer patients in Sweden
Tzortzatos, G., Wersäll, O. C., Gemzell‐Danielsson, K., Lindblom, A., Tham, E., & Mints, M. (2014) · Hereditary Cancer in Clinical Practice · doi:10.1186/1897-4287-12-14 · Cited by 13 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Early detection of pancreatic cancer
Pereira, S. P., Oldfield, L., Ney, A., Hart, P. A., Keane, M. G., Pandol, S. J., Li, D., Greenhalf, W., Jeon, C. Y., Koay, E. J., et al. (2020) · The Lancet Gastroenterology & Hepatology · doi:10.1016/s2468-1253(19)30416-9 · Cited by 482 · see citing works
Wendt, C., & Margolin, S. (2019) · Acta Oncologica · doi:10.1080/0284186x.2018.1529428 · Cited by 133 · see citing works
Self-citationPrevalence of BRCA1 and BRCA2 pathogenic variants in a large, unselected breast cancer cohort
Li, J., Wen, W. X., Eklund, M., Kvist, A., Eriksson, M., Christensen, H. N., Torstensson, A., Bajalica‐Lagercrantz, S., Dunning, A. M., Decker, B. J., et al. (2018) · International Journal of Cancer · doi:10.1002/ijc.31841 · Cited by 46 · see citing works
Non- BRCA familial breast cancer: review of reported pathology and molecular findings
Keeney, M. G., Couch, F. J., Visscher, D. W., & Lindor, N. M. (2017) · Pathology · doi:10.1016/j.pathol.2017.03.002 · Cited by 28 · see citing works
Liang, F., & Jin, F. (2019) · Oncology Letters · doi:10.3892/ol.2019.10046 · Cited by 20 · see citing works
Rai, H. M., Yoo, J., Agarwal, S., & Agarwal, N. (2025) · Bioengineering · doi:10.3390/bioengineering12010073 · Cited by 17 · see citing works
Yousif, H. M., Mohammed, R. A. A., Missawi, H., Elsawaf, Z. M., & Albasry, A. M. (2018) · Journal of Taibah University Medical Sciences · doi:10.1016/j.jtumed.2018.11.005 · Cited by 13 · see citing works
Barnekow, E., Liu, W., Helgadottir, H. T., Michailidou, K., Dennis, J., Bryant, P., Thutkawkorapin, J., Wendt, C., Czene, K., Hall, P. N., et al. (2022) · Cancers · doi:10.3390/cancers14051206 · Cited by 10 · see citing works
Self-citationBarnekow, E., Hasslow, J., Liu, W., Bryant, P., Thutkawkorapin, J., Wendt, C., Czene, K., Hall, P. N., Margolin, S., & Lindblom, A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24054468 · Cited by 8 · see citing works
Self-citationYousif, H. M., & Mohammed, R. A. A. (2018) · Current Problems in Cancer · doi:10.1016/j.currproblcancer.2018.10.003 · Cited by 4 · see citing works
Vermani, L., Barnekow, E., Liu, W., Wendt, C., Hall, P. N., Margolin, S., & Lindblom, A. (2024) · Genes · doi:10.3390/genes15121616 · Cited by 1 · see citing works
Self-citationA breast and endometrial cancer syndrome
Wendt, C., & Margolin, S. (2016) · Maturitas · doi:10.1016/j.maturitas.2016.01.011
Self-citationIncreased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients
Winnberg, J. S., Rudd, E., Keränen, A., Lagerstedt‐Robinson, K., Lindblom, A., Nilsson, M., Lindblad, M., & Sjödahl, K. (2020) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-020-00145-y
Self-citationBarnekow, E., Liu, W., Andersson, M., von Wachenfeldt, A., Wendt, C., Tham, E., Mints, M., O’Mara, T. A., Hall, P. N., Margolin, S., et al. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26125461
Self-citationSamola Winnberg, J., Rudd, E., Keränen, A., Lagerstedt‐Robinson, K., Lindblom, A., Nilsson, M., Lindblad, M., & Sjödahl, K. (2020) · Figshare · doi:10.6084/m9.figshare.12441638
Self-citation
- Authors
- Wendt, C., Lindblom, A., Arver, B., von Wachenfeldt, A., & Margolin, S.
- Affiliations
- Karolinska University Hospital (SE)
- Corresponding author
- Wendt, Camilla
- Venue
- Hereditary Cancer in Clinical Practice
- Published
- 2015-06-16
- Volume
- 13
- Issue
- 1
- Pages
- 15-15
- ISSN
- 1731-2302 (ISSN-L)
- 1897-4287
- PMC
- PMC4469256
- OpenAlex
- W2136942924
- Cited by
- 16
- References
- 51
- Citations by year
- 2025: 3 · 2024: 1 · 2023: 1 · 2022: 1 · 2020: 3 · 2019: 2 · 2018: 3 · 2017: 1 · 2016: 1
- FWCI
- 1.15
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Hereditary Cancer in Clinical Practice (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Karolinska Institutet
- Stockholms Läns Landsting
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Epidemiology › Multiple and Secondary Primary Cancers
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- hereditary breast cancer, hereditary cancer, endometrial cancer, genetic counseling, susceptibility genes, pedigree analysis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
