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Familial Cancer

Familial Cancer OnlineFirst articles

26.11.2018 | Short Communication

Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome

Precise genetic counseling and prenatal diagnosis are often hindered by incomplete penetrance of risk variance and complex patterns of inheritance. Here, we performed a clinical and genetic study of a five-generation Pakistani family with a …

27.10.2018 | Short Communication

Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma

Germline mutations of the POLE gene are responsible for polymerase proofreading-associated polyposis syndrome (PPAP). These mutations were hypothesised to predispose to extra-gastrointestinal tumours (ovary, endometrium, brain), but this …

10.10.2018 | Original Article

Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature

Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate …

09.10.2018 | Short Communication Open Access

Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes

Approximately 27–36 million patients in Europe have one of the ~ 5.000–8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four …

09.10.2018 | Original Article

Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition

Development of multiple colorectal cancers (CRCs), synchronously or metachronously, is associated with hereditary predisposition for cancer and accurate risk estimates of multiple tumour development are relevant to recommend rational surveillance …

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Clinical cancer genetics has now matured to a truly multidisciplinary medical discipline in which clinical and molecular geneticists work with clinical and medical oncologists as well as with psycho-social workers.

Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together, focusing on the interests and needs of the clinician.

The journal concentrates on clinical cancer genetics. Most major areas in the field are included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counseling and the health economics of familial cancer.

Familial Cancer publishes Original Articles, Reviews, Short Communications, Book Reviews, and Letters to the Editor.

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