Hereditary breast cancer and genetic counseling in young women

Brunet, Joan

doi:10.1007/s10549-010-1050-5

Cited by 10 publications

(10 citation statements)

References 21 publications

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“…Young breast cancer cases were unselected for a family history of cancer and diagnosed with breast cancer at or below the age of 40 (median 38, variation 25–40 years). These cases were combined with the familial cohort to form a single hereditary cohort, based on the assumption that when a woman below the age of 40 years develops breast cancer, a hereditary predisposition may be suspected regardless of the family history 43 . In the hereditary cohort fulfilling the inclusion criteria of the current study, 19/247 (8%) of the cases carried known mutations in BRCA1 or BRCA2 21 , Supplementary Table S5.…”

Section: Methodsmentioning

confidence: 99%

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Mantere

Tervasmäki

Nurmi

et al. 2017

Sci Rep

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Several known breast cancer susceptibility genes encode proteins involved in DNA damage response (DDR) and are characterized by rare loss-of-function mutations. However, these explain less than half of the familial cases. To identify novel susceptibility factors, 39 rare truncating mutations, identified in 189 Northern Finnish hereditary breast cancer patients in parallel sequencing of 796 DDR genes, were studied for disease association. Mutation screening was performed for Northern Finnish breast cancer cases (n = 578–1565) and controls (n = 337–1228). Mutations showing potential cancer association were analyzed in additional Finnish cohorts. c.7253dupT in TEX15, encoding a DDR factor important in meiosis, associated with hereditary breast cancer (p = 0.018) and likely represents a Northern Finnish founder mutation. A deleterious c.2715 + 1G > A mutation in the Fanconi anemia gene, FANCD2, was over two times more common in the combined Finnish hereditary cohort compared to controls. A deletion (c.640_644del5) in RNF168, causative for recessive RIDDLE syndrome, had high prevalence in majority of the analyzed cohorts, but did not associate with breast cancer. In conclusion, truncating variants in TEX15 and FANCD2 are potential breast cancer risk factors, warranting further investigations in other populations. Furthermore, high frequency of RNF168 c.640_644del5 indicates the need for its testing in Finnish patients with RIDDLE syndrome symptoms.

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Section: Methodsmentioning

confidence: 99%

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Mantere

Tervasmäki

Nurmi

et al. 2017

Sci Rep

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“…These patients were unselected for a family history of the disease, and tested negative for Finnish BRCA1 , BRCA2 and PALB2 founder mutations. This independent breast cancer cohort was collected as a validation group for the studied familial cases, based on the assumption that when a woman under the age of 40 years develops breast cancer, a hereditary predisposition may be suspected regardless whether there is a family history or not [53]. All biological specimens and clinical information of the familial and young breast cancer cases investigated were collected at the Oulu University Hospital, with the written informed consent of the patients.…”

Section: Methodsmentioning

confidence: 99%

Rare Copy Number Variants Observed in Hereditary Breast Cancer Cases Disrupt Genes in Estrogen Signaling and TP53 Tumor Suppression Network

et al. 2012

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Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number variants (CNVs) in breast cancer predisposition, high-resolution genome-wide scans were performed on genomic DNA of 103 BRCA1, BRCA2, and PALB2 mutation negative familial breast cancer cases and 128 geographically matched healthy female controls; for replication an independent cohort of 75 similarly mutation negative young breast cancer patients was used. All observed rare variants were confirmed by independent methods. The studied breast cancer cases showed a consistent increase in the frequency of rare CNVs when compared to controls. Furthermore, the biological networks of the disrupted genes differed between the two groups. In familial cases the observed mutations disrupted genes, which were significantly overrepresented in cellular functions related to maintenance of genomic integrity, including DNA double-strand break repair (P = 0.0211). Biological network analysis in the two independent breast cancer cohorts showed that the disrupted genes were closely related to estrogen signaling and TP53 centered tumor suppressor network. These results suggest that rare CNVs represent an alternative source of genetic variation influencing hereditary risk for breast cancer.

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“…35 The identification of hereditary predisposition to cancer is important because the prevalence of familial cancer in some types of cancer is sufficiently high to have clinical impact. 36,37 It is also important in treatment selection, as genetic abnormalities underlying cancers may predispose patients to enhanced treatmentrelated toxicity, especially if DNA damage and repair pathways are affected. 6 A major limitation of our study was a potential for recall bias, as the participants' family history of cancer was self-reported.…”

Section: Indigenous Health Indigenous Australians: Cancer Risk and Gementioning

confidence: 99%

Exploring the cancer risk perception and interest in genetic services among Indigenous people in Queensland, Australia

Bernardes

Valery

Garvey

2014

Australian and New Zealand Journal of Public Health

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Aust NZ J Public Health. 2014; 38:344-8; doi: 10.1111/1753 Abstract Objective: The purpose of this study is to explore the levels of interest among Indigenous people with cancer in identifying cancer risk in their family and seeking genetic counselling/ testing. Design and setting:A cross-sectional survey of Indigenous cancer patients recruited from four major treating hospitals in Queensland. Participants' family history of cancer and interest in genetic counselling/testing was sought using a structured questionnaire.Results: Overall, 73.0% of 252 participants reported having a family history of cancer; of those, 52.8% had at least one first-degree relative with cancer. A total of 68.3% of participants indicated concern about relatives being affected by cancer and 54.4% of participants indicated they would like to assess the cancer risk in their family with a specialist. Concern was associated with willingness to discuss the risk of cancer with a specialist (p<0.001).Conclusions: Indigenous cancer patients do have a family history of cancer and appear willing to undergo genetic counselling/investigation. It is of great concern that this population could miss the benefits of the technological advances in health care, creating a much larger disparity in health outcomes.Implications: Health service providers should not assume that Indigenous cancer patients will not follow their recommendations when referred to genetic counselling/investigation services.

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Hereditary breast cancer and genetic counseling in young women

Abstract: Phone:+34 972 94 02 00Fax: +34 972 94 02 70

Cited by 10 publications

References 21 publications

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility

Rare Copy Number Variants Observed in Hereditary Breast Cancer Cases Disrupt Genes in Estrogen Signaling and TP53 Tumor Suppression Network

Exploring the cancer risk perception and interest in genetic services among Indigenous people in Queensland, Australia

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