Familial Cancer

Our medical research library holds 6 studies published in Familial Cancer (2005–2026). Each entry links to the study's record on PubMed and, where there is one, to the publisher's page and a free full text. 6 have an abstract, the authors' own summary as PubMed records it: open "Abstract" to read it.

About the journal

• Publisher: Springer
• Published: 2000 to the present, Netherlands
• Language: English
• ISSN: 1389-9600 (print), 1573-7292 (electronic)
• Its record in the NLM Catalog

2020s

• Brief report: attitudes and barriers toward genetic testing in pleural mesothelioma: a nationwide Italian survey. L. Cerbone, M. Perrino, F. Grosso, et al. 2026;25(3). PubMed · Publisher · Free full text

  Abstract

  Pleural mesothelioma (PM) is a malignancy with a relevant genetic component, with germline mutations identified in up to 12% of cases. International guidelines recommend universal germline testing; however, its implementation in routine clinical practice remains inconsistent. This nationwide survey aimed to assess current clinical practice, attitudes, and barriers related to genetic testing among Italian specialists within the Mesothelioma Team Italy (MET-I) network. A 24-item questionnaire was distributed to MET-I members in 2025, exploring access to testing, clinical use, and perceived obstacles to both germline and somatic DNA sequencing. Forty-five physicians responded (53.6%). Although access to germline testing was relatively high (77.8%), only 6.7% of respondents routinely recommended it. Conversely, somatic NGS was widely available (95.6%) and primarily used for clinical trial screening (66.7%). The main barriers to germline testing included costs (62.2%), limited access to genetic counseling (51.1%), and insufficient physician awareness (48.8%). Despite the availability of genetic testing technologies, germline genetic testing in PM is underutilized in Italy.

  © 2026. The Author(s).

• Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome-a useful clinical marker?. E. Sjøstrøm, L.B. Ahlborn, E.V. Eliesen, et al. 2026;25(2). Case report PubMed · Publisher · Free full text

  Abstract

  The BAP1 gene encodes a tumor suppressor protein implicated in BAP1 tumor predisposition syndrome (BAP1-TPDS), a hereditary condition associated with an increased risk of uveal and skin melanoma, mesothelioma, and renal cancer. In this case report, we describe a male patient diagnosed with mesothelioma carrying a germline BAP1 variant. The patient exhibited severe nail abnormalities affecting all ten fingernails and several toenails. To our knowledge, the association between onychopapilloma and pathogenic germline BAP1 variants has only been reported once in the literature. The patient had experienced nail abnormalities since adolescence. Based on these findings, we propose that polydactylous onychopapilloma may serve as a clinical marker of BAP1-TPDS in otherwise asymptomatic individuals, and could potentially aid in early identification of at-risk carriers.

• Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant. K.A. Ragnarsson, G. Garcia, J.G. Jonasson, et al. 2026;25(1):23. Case report PubMed · Publisher · Free full text

  Abstract

  BAP1 tumour predisposition syndrome (BAP1-TPDS) is a hereditary cancer syndrome caused by heterozygous pathogenic germline variants in BAP1. BAP1-TPDS is associated with an increased risk for various malignant tumours, the core of which is uveal and cutaneous melanoma, malignant mesothelioma, and renal cell carcinoma. In BAP1-TPDS, the majority of disease-causing BAP1 variants are null variants, although missense variants have been reported. We report a patient with BAP1-TPDS caused by the novel germline BAP1 missense variant NM_004656.4:c.382G > A, p.(Gly128Arg). The patient developed BAP1-inactivated melanocytic tumours, clear-cell renal cell carcinoma, and splenic hamartoma. An incidental splenic hamartoma was detected in existing tissue slides from the patient's deceased first-degree relative, who was an obligate carrier for BAP1-TPDS. In both splenic hamartomas, loss of BAP1 nuclear staining was detected in a subset of cells on immunohistochemistry. To our knowledge, this is the first report with immunohistochemical data supporting biallelic loss of BAP1 as a contributing step in the development of a splenic hamartoma in a patient with BAP1-TPDS. It supports expanding the tumour spectrum of BAP1-TPDS to splenic hamartoma and possibly other benign splenic tumours.

  © 2026. The Author(s).

• Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing. L. Byrne, C. Ingalls, A. Ansari, et al. 2023;22(3):307-311. Case report PubMed · Publisher · Free full text

  Abstract

  Germline pathogenic variants in the tumor suppressor gene BAP1 are associated with the hereditary tumor predisposition syndrome with susceptibility to uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and other cancers. Germline BAP1 pathogenic variants are rare in the non-cancer general population with an estimated carrier frequency of 1:19,898 but more common in cancer patients with a carrier frequency of 1:1299. In the following we present the first report of a family with two unique BAP1 pathogenic variants. Retrospective case report of a family with two unique pathogenic variants in BAP1. A male (proband) was referred to our ocular oncology clinic for second opinion for his multiple independent uveal melanomas at ages 65, 68 and 71. Given his personal history of squamous cell carcinoma at age 61, renal cell carcinoma at age 63, and family history of atypical meningioma, basal cell carcinoma, pancreatic and prostate cancers he was assessed for germline pathogenic variants in BAP1 through our ongoing research study. Sanger sequencing identified the American founder pathogenic variant, c.1717delC, pL573Wfs*3, that was confirmed in a clinical laboratory. Both the proband's brother and nephew tested negative for the familial variant through single site cascade genetic testing. However, based on the personal history of multiple basal cell carcinoma in the nephew and family history of pancreatic and laryngeal cancers (both not known to be associated with BAP1-TPDS), a large cancer panel testing was recommended for the nephew. His panel testing revealed a different BAP1 pathogenic variant, c.605G>A, p. Trp202*. This variant was not detected in the proband or the proband's brother. Based on the frequency of germline BAP1 variants in the cancer population, the chance of occurrence of two different BAP1 variants in a family with cancer history is 5.9 × 10-7. This case report provides support for the importance of offering large panel cascade genetic testing, rather than single site testing for only the family pathogenic variant, for all at risk family members especially when the family variant cannot explain all the cancers in the family.

  © 2022. The Author(s), under exclusive licence to Springer Nature B.V.

2010s

• Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma. M. Hylebos, K. Op de Beeck, J. van den Ende, et al. 2018;17(4):569-576. PubMed · Publisher

  Abstract

  Familial clustering of malignant mesothelioma (MM) has been linked to the presence of germline mutations in BAP1. However, families with multiple MM patients, without segregating BAP1 mutation were described, suggesting the existence of other predisposing genetic factors. In this study, we report a previously undescribed Belgian family, in which BAP1 was found to be absent in the epithelial malignant mesothelial cells of the index patient. Whole exome analysis did not reveal a germline or somatic BAP1 variant. Also, no germline or somatic copy number changes in the BAP1 region could be identified. However, germline variants, predicted to be damaging, were detected in 11 other 'Cancer census genes' (i.e. MPL, RBM15, TET2, FAT1, HLA-A, EGFR, KMT2C, BRD3, NOTCH1, RB1 and MYO5A). Of these, the one in RBM15 seems to be the most interesting given its low minor allele frequency and absence in the germline DNA of the index patient's mother. The importance of this 'Cancer census gene' in familial MM clustering needs to be evaluated further. Nevertheless, this study strengthens the suspicion that, next to germline BAP1 alterations, other genetic factors might predispose families to the development of MM.

2000s

• Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation. M.E. Baser, H. Rai, A.J. Wallace, et al. 2005;4(4):321-2. Case report PubMed · Publisher

  Abstract

  Neurofibromatosis 2 (NF2) is caused by inactivating mutations of the NF2 tumor suppressor gene. Somatic NF2 mutations also occur in a high proportion of human primary malignant mesotheliomas. We report an elderly man with NF2, malignant mesothelioma, and a constitutional NF2 missense mutation. The long latent period for mesothelioma in this patient (61 years) raises the possibility that the type of mutant NF2 allele could affect mesothelioma tumorigenesis or progression.

Browse every journal in the library or the library by type of article, or return to medical research.