Hereditary breast cancer syndromes and genetic testing

Rich, Thereasa A.; Woodson, Ashley H.; Litton, Jennifer K.; Arun, Banu K.

doi:10.1002/jso.23791

Cited by 32 publications

(22 citation statements)

References 301 publications

(380 reference statements)

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“…In women with BC, about 1 in 10 cases represents a form of hereditary BC (Fig. 3) 61,62 ; however, in young patients, this genetic susceptibility may be higher. Predisposing gene mutations can be classified according to the relative risk (RR) of developing cancer when a patient carries a particular germline mutation.…”

Section: Germline Genomic Profile In Ywbc Bc-predisposing Gene Mutationsmentioning

confidence: 99%

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Gómez-Flores-Ramos¹,

Castro-Sánchez

Peña-Curiel

et al. 2017

RIC

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Young women with breast cancer (YWBC) represent roughly 15% of breast cancer (BC) cases in Latin America and other developing regions. Breast tumors occurring at an early age are more aggressive and have an overall worse prognosis compared to breast tumors in postmenopausal women. The expression of relevant proliferation biomarkers such as endocrine receptors and human epidermal growth factor receptor 2 appears to be unique in YWBC. Moreover, histopathological, molecular, genetic, and genomic studies have shown that YWBC exhibit a higher frequency of aggressive subtypes, differential tumor gene expression, increased genetic susceptibility, and specific genomic signatures, compared to older women with BC. This article reviews the current knowledge on tumor biology and genomic signatures in YWBC.

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Section: Germline Genomic Profile In Ywbc Bc-predisposing Gene Mutationsmentioning

confidence: 99%

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Gómez-Flores-Ramos¹,

Castro-Sánchez

Peña-Curiel

et al. 2017

RIC

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“…These data were quickly replicated by other groups using additional sets of families [111][112][113][114]. Furthermore, systematic screening for BRCA1 and BRCA2 mutations revealed that approximately 5% of total breast cancer morbidity, and about 15-25% of familial BC clustering, is attributed to BRCA1/2 mutations [115][116][117][118][119][120]. Although the frequencies of BRCA1 and BRCA2 defects vary between different ethnic groups, with increased prevalence of BRCA1 in some and BRCA2 in others, these genes appear to have a worldwide medical significance [121].…”

Section: Breast Cancermentioning

confidence: 95%

Identification of novel hereditary cancer genes by whole exome sequencing

et al. 2015

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Whole exome sequencing (WES) provides a powerful tool for medical genetic research. Several dozens of WES studies involving patients with hereditary cancer syndromes have already been reported. WES led to breakthrough in understanding of the genetic basis of some exceptionally rare syndromes; for example, identification of germ-line SMARCA4 mutations in patients with ovarian hypercalcemic small cell carcinomas indeed explains a noticeable share of familial aggregation of this disease. However, studies on common cancer types turned out to be more difficult. In particular, there is almost a dozen of reports describing WES analysis of breast cancer patients, but none of them yet succeeded to reveal a gene responsible for the significant share of missing heritability. Virtually all components of WES studies require substantial improvement, e.g. technical performance of WES, interpretation of WES results, mode of patient selection, etc. Most of contemporary investigations focus on genes with autosomal dominant mechanism of inheritance; however, recessive and oligogenic models of transmission of cancer susceptibility also need to be considered. It is expected that the list of medically relevant tumor-predisposing genes will be rapidly expanding in the next few years.

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“…Ungefähr 5 % aller Mammakarzinome können auf eine autosomaldominant vererbte genetische Erkrankung zurückgeführt werden [17]. Für die vererbbare Variante des Mammakarzinoms sind vorrangig Mutationen in den Genen BRCA1 und BRCA2 (breast cancer 1 bzw.…”

Section: Genetikunclassified

Trastuzumab in der Behandlung schwangerer Mammakarzinompatientinnen – ein Literaturüberblick

Goller

Markert

Fröhlich

2019

Senologie - Zeitschrift für Mammadiagnostik und -therapie

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ZusammenfassungDas Mammakarzinom gehört zu den am häufigsten in der Schwangerschaft auftretenden Malignomen. Da Frauen zunehmend erst in fortgeschrittenem Alter gebären, ist anzunehmen, dass die Inzidenz schwangerschaftsassoziierter Mammakarzinome zukünftig weiter steigen wird. Aufgrund schwangerschaftsbedingter Veränderungen und zurückhaltender Diagnostik kommt es häufig dazu, dass diese Karzinome erst in fortgeschrittenen Stadien detektiert werden und somit meist einer systemischen adjuvanten Therapie bedürfen. Verfügbare Daten bezüglich des optimalen chemotherapeutischen Managements sind limitiert. Insbesondere zur Anwendung des Target-Agents Trastuzumab, das in der Therapie des HER2-überexprimierenden Mammakarzinoms der nicht schwangeren Frau einen entscheidenden Beitrag zur Verbesserung der Prognose leisten konnte, fehlen dezidierte Informationen bezüglich des Wirk- und Sicherheitsprofils in der Schwangerschaft sowie auch hinsichtlich etwaiger Langzeiteffekte auf das Kind. Innerhalb der derzeit verfügbaren Literatur konnten 38 Schwangerschaften unter Trastuzumab zur Therapie eines Mammakarzinoms analysiert werden. Es lassen sich daraus Informationen gewinnen und Rückschlüsse ziehen, die zukünftig die Therapieoptionen der schwangeren Mammakarzinompatientin individualisieren und entscheidend verbessern können.

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Hereditary breast cancer syndromes and genetic testing

Cited by 32 publications

References 301 publications

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

Identification of novel hereditary cancer genes by whole exome sequencing

Trastuzumab in der Behandlung schwangerer Mammakarzinompatientinnen – ein Literaturüberblick

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