Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes-Practice resource of the National Society of Genetic Counselors.

Cancer risk assessment and genetic counseling for hereditary breast and ovarian cancer (HBOC) are a communication process to inform and prepare patients for genetic test results and the related medical management. An increasing number of healthcare providers are active in the delivery of cancer risk assessment and testing, which can have enormous benefits for enhanced patient care. However, genetics professionals remain key in the multidisciplinary care of at-risk patients and their families, given their training in facilitating patients' understanding of the role of genetics in cancer development, the potential psychological, social, and medical implications associated with cancer risk assessment and genetic testing. A collaborative partnership of non-genetics and genetics experts is the ideal approach to address the growing number of patients at risk for hereditary breast and ovarian cancer. The goal of this practice resource is to provide allied health professionals an understanding of the key components of risk assessment for HBOC as well as the use of risk models and published guidelines for medical management. We also highlight what patient types are appropriate for genetic testing, what are the most appropriate test(s) to consider, and when to refer individuals to a genetics professional. This practice resource is intended to serve as a resource for allied health professionals in determining their approach to delivering comprehensive care for families and individuals facing HBOC. The cancer risk and prevalence figures in this document are based on cisgender women and men; the risks for transgender or non-binary individuals have not been studied and therefore remain poorly understood.

Development of 15 microsatellite loci in the endangered Streptanthus glandulosus subsp. niger (Brassicaceae).

PREMISE OF THE STUDY: The endangered Streptanthus glandulosus subsp. niger (Brassicaceae) is endemic to a single peninsula in California and threatened by fragmentation. We developed microsatellite markers to investigate genetic diversity in the two extant populations and the degree to which they have diverged from one another. METHODS AND RESULTS: We used Illumina HiSeq high-throughput sequencing to develop 15 microsatellite markers, 14 of which were polymorphic. These di- and trinucleotide repeats yielded one to 11 alleles per locus in 61 plants across the two populations. Levels of observed and expected heterozygosities ranged from 0.108 to 0.946 and 0.257 to 0.839, respectively. We demonstrated cross-amplification in a second rare subspecies, S. glandulosus subsp. secundus, and in the widespread congener S. tortuosus. CONCLUSIONS: These are the first microsatellites reported for this subspecies, and they will aid in the inclusion of genetic information in conservation planning. Cross-amplification was demonstrated in two related taxa, including one of conservation concern.

NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.

PURPOSE: The purpose of this document is to present a current and comprehensive set of practice recommendations for effective genetic cancer risk assessment, counseling and testing for hereditary breast and ovarian cancer. The intended audience is genetic counselors and other health professionals who care for individuals with, or at increased risk of, hereditary breast and/or ovarian cancer.

Mitochondrial inheritance in depression, dysmotility and migraine?

BACKGROUND: Several studies have reported a high degree of association of the common conditions of depression, bowel dysmotility and migraine. Mitochondrial dysfunction and mitochondrial DNA (mtDNA) sequence variants have been linked individually to each of these three conditions, providing a plausible hypothesis for the reported association. If this hypothesis is correct, the matrilineal relatives (who all share essentially the same mtDNA sequence) of patients with mitochondrial disease secondary to inherited mtDNA mutations would be expected to have an elevated prevalence of each of these three conditions. METHODS: Families were recruited by an advertisement posted on the United Mitochondrial Disease Foundation website and invited to participate in an on-line questionnaire if at least one member was diagnosed with mitochondrial disease by a physician. Based upon the reported family histories, families were assigned by the investigators to either the probable maternal inheritance (PMI) group (55 families) or the probable non-maternal inheritance (PnMI) group (111 families). RESULTS: Bowel disorders, migraine and depression were reported at very high prevalence in the PMI mothers (60%, 54% and 51%, respectively), but were present at significantly lower prevalence rates among the PnMI mothers (16%, 26% and 12%; P<0.0001 for each) and the fathers of both groups (range 9-16%; P < 2 x 10(-6) for each). Similar data was obtained comparing the prevalence rates among maternal and paternal grandmothers, aunts and uncles. LIMITATIONS: Our data was obtained from families ascertained by the presence of a severely affected individual, and may not be applicable to families lacking this proband. CONCLUSIONS: Depression, bowel dysmotility and migraine are common manifestations in individuals with mtDNA sequence-related mitochondrial dysfunction, which supports our hypothesis that mitochondrial dysfunction is a major common factor underlying the association of these three conditions.

A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders.

Although mothers of chronically ill children are generally prone to depression and anxiety, clinical observation suggests that these symptoms are relatively increased in mothers of children with maternally inherited mitochondrial disorders (MIMD). In this study, the Beck Depression Inventory II (BDI), the Beck Anxiety Inventory (BAI), and a non-standardized mental health questionnaire were administered to 15 mothers of children with MIMD and 17 mothers of children with autosomal recessive metabolic disorders (ARMD) followed in one clinic. One half of the children in both groups suffer from mental retardation and/or > or = 2 hospitalizations/year related to their genetic disorder, and were labeled as severely affected. BDI and BAI scores were similar between mothers of severely affected MIMD and ARMD children, but BDI and BAI scores were threefold higher in mothers of mildly affected MIMD versus ARMD children (P = 0.001 and P = 0.003, respectively). Any mental health condition was self-reported in 10/15 MIMD and 2/17 ARMD mothers (P = 0.002), while at least one mental health condition per family was reported to be present in a matrilineal first-degree relative of the mother in 8/15 MIMD versus 1/17 ARMD families (P = 0.004). Our data confirm that mental health conditions, particularly depression, are diagnosed at an increased frequency among matrilineal relatives likely sharing the same mitochondrial DNA (mtDNA) as the affected proband. While previous studies have demonstrated that mtDNA sequences can affect brain function, our data suggests that in addition mtDNA sequences can predispose individuals towards the development of some "mental health" disorders. Thus, "genome-wide" studies to screen for genes associated with depression and anxiety should not neglect the small, yet important, mitochondrial genome.