Page 5 of 16
There is limited research on why some individuals who have undergone predictive genetic testing for Lynch syndrome do not adhere to screening recommendations. This study aimed to explore qualitatively how Lync...
Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case r...
While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R...
Early-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such a...
There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, whic...
In the course of our whole-genome sequencing efforts, we have developed a pipeline for analyzing germline genomes from Mendelian types of cancer pedigrees (familial cancer variant prioritization pipeline, FCVPP).
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of gastrointestinal tract. They feature heterogeneous triggering mechanisms, implying relevant clinical differences. The vast m...
Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS) account for a significant proportion of inherited gynecologic malignancies, mainly caused by pathogenic germline mutations in the BRCA1
Germline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish p...
The decision to test for high risk breast cancer gene mutations is traditionally based on risk scores derived from age, family and personal cancer history. Next generation sequencing technologies such as whole...
Ganglioneuromatous polyposis (GP) is a very rare disorder which may be associated with other clinical manifestations and syndromes, such as Cowden syndrome, multiple endocrine neoplasia (MEN) type II and neuro...
One way of evaluating family history (FH) for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the “BRCA-ness” of a pedigree by comparing it to reference populations. The aim of ...
PALB2 has taken its place with bona fide breast cancer susceptibility genes. It is now well established that women who carry loss-of-function mutations in the PALB2 gene are at similarly elevated breast cancer ri...
The addition of annual MRI screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast can...
The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in 2015.
Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic carrier. The second patient diagnosed with two BRCA1 ...
The Correction to this article has been published in Hereditary Cancer in Clinical Practice 2022 20:20
Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been exam...
Treatment outcomes appear to be better for ovarian cancer (OC) patients carrying the BRCA1/2 germline mutation than for patients with sporadic OC. However, most published data are for North American, British and ...
Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and
Breast cancer (BC) is an important public health problem worldwide. In Brazil, breast cancer is the most frequently diagnosed tumor and the leading cause of cancer death in women. Hereditary cancer represents ...
The role of germline mutations in BRCA1 and BRCA2 genes in the risk of the development of ovarian cancer is clinically well established. BRCA1/2 testing seems to have increasing role in clinical management in pat...
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
This article is part of a Supplement: Volume 13 Supplement 2
Germ-line mutations in several genes, such as BRCA1 and BRCA2, are known to increase the risk of breast cancer. These heritable mutations are unequally represented among populations with different ethnic backgrou...
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
This article is part of a Supplement: Volume 13 Supplement 1
2022 Citation Impact
1.7 - 2-year Impact Factor
2.2 - 5-year Impact Factor
0.634 - SNIP (Source Normalized Impact per Paper)
0.526 - SJR (SCImago Journal Rank)
2022 Speed
6 days submission to first editorial decision for all manuscripts (Median)
148 days submission to accept (Median)
2022 Usage
277,857 downloads
231 Altmetric mentions
Hereditary Cancer in Clinical Practice