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CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome
ConclusionsThis case reminds clinicians to consider the possibility of a germlineCDKN2A mutation in families with a high prevalence of PDAC, even in the absence of moles or melanoma. This case supports recent guidelines published by the American College of Medical Genetics and Genomics (ACMG) that genetics referrals are indicated in families with three or more cases of PDAC regardless of other cancer types in the family. A multi-gene panel approach is of particular benefit in diagnosing inherited cancer susceptibility in PDAC-only families. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - March 7, 2018 Category: Cancer & Oncology Source Type: research

Clinical Genetics of Cancer 2017
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 28, 2018 Category: Cancer & Oncology Source Type: research

Frequency of BRCA1 and BRCA2 causative founder variants in ovarian cancer patients in South-East Poland
ConclusionsThe frequency of 13 causative founder variants in Podkarpacie was lower than in other regions of Poland. Testing of threeBRCA1 mutations (c.5266dupC, c.181  T >  G, c.676delT) should be considered a sensitive test panel. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - February 27, 2018 Category: Cancer & Oncology Source Type: research

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
ConclusionAll women in breast or breast/ovarian cancer kindreds would benefit from being offered genetic testing irrespective of which causative genetic variants have been demonstrated in their relatives. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 15, 2018 Category: Cancer & Oncology Source Type: research

BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway
ConclusionsThe spectrum ofBRCA1 andBRCA2 mutations in the carrier population at Norway ’s largest cancer genetics clinic is diverse, and with a weaker founder effect than previously described. As a consequence, retesting the families that previously have been tested with specific tests/founder mutation tests should be a prioritised strategy to find more mutation positive families an d possibly prevent cancer in healthy relatives. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 10, 2018 Category: Cancer & Oncology Source Type: research

Central nervous system gadolinium accumulation in patients undergoing periodical contrast MRI screening for hereditary tumor syndromes
ConclusionsGadolinium accumulation occurs in almost all patients undergoing contrast MRI screening after>5 MRIs. We advocate a screening protocol for patients with hereditary tumor syndromes that minimizes the Gadolinium dose. This can be accomplished by using a single administration to simultaneously screen for brain, spine and/or abdominal lesions, using an MRI protocol focused on either VHL- or TSC-specific lesions. Higher prevalence and rate of accumulation in VHL patients may be explained by the typical vascular leakage accompanying central nervous system hemangioblastomas. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 5, 2018 Category: Cancer & Oncology Source Type: research

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory
ConclusionThese results provide the actual percentage of family or personal history of cancer that can be attributed to pathogenic or likely pathogenic variants in one or more of the genes on our panel and corroborate the utility of multi-gene panels over sequential testing to identify individuals with an inherited predisposition to cancer. (Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - January 4, 2018 Category: Cancer & Oncology Source Type: research

Meeting abstracts from the Annual Conference on Hereditary Cancers 2016
(Source: Hereditary Cancer in Clinical Practice)
Source: Hereditary Cancer in Clinical Practice - December 5, 2017 Category: Cancer & Oncology Source Type: research