The NOD2 3020insC Mutation in Women with Breast Cancer from the Bydgoszcz Region in Poland. First Results

Janiszewska, Hanna; Haus, Olga; Bąk, Aneta; Mierzwa, Tomasz; Sir, Jan; Laskowski, Ryszard

doi:10.1186/1897-4287-4-1-15

Cited by 7 publications

(11 citation statements)

References 9 publications

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“…Others calculated that the mutation's frequency (11.4%) was two times higher in women of families with a single case of BC. 29 A c.5972C>T polymorphic variant in the BRCA2 is present in 8.3% of unselected BC patients diagnosed at 40 or less, and especially in those with DCIS with microinvasion, as was the case of our patient. Heterozygotes (C/T) for c.5972C>T in BRCA2 are at a 3-fold risk for DCIS BC before 50 compared with a 5-fold risk for homozygous (T/T) carriers.…”

Section: Discussionsupporting

confidence: 71%

“…Huzarski et al established that this NOD2 founder mutation is relatively common in Poland, present in 7.3% of the general population and may be responsible for a significant proportion of breast, colon, lung, larynx, and ovarian cancers. 27 The NOD2 c.3020insC allele was found in approximately 8% of all BCs 29,30 and in 13.2% of cases diagnosed before the age of 50. 27,28 A c.3020insC in NOD2 increases the risk of DCIS-bearing BC below age 50 about 5-fold.…”

Section: Discussionmentioning

confidence: 99%

“…26 The NOD2 was initially known as a predisposing factor for Crohn's disease, later as a colon cancer susceptibility gene, and finally as a multiple organ (lung, larynx, breast, thyroid, ovarian, and colon) cancer susceptibility gene. [27][28][29][30] A frameshift mutation, c.3020insC p.Glu1008Ter in NOD2, was found to correlate with an increased risk (OR D 1.9) for BC especially in the younger patient population (<50 years). DCIS was more prevalent in young NOD2 mutation carriers.…”

Section: Introductionmentioning

confidence: 97%

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Breast cancer in an 18-year-old female: A fatal case report and literature review

Jóźwik

Posmyk

Jóźwik

et al. 2018

Cancer Biology & Therapy

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Breast cancer (BC) is the most frequent malignancy in both pre- and postmenopausal women. However, it is exceedingly rare in very young patients, and especially in adolescents. Herein, we report a case of an 18-year-old female diagnosed with invasive BC. The proband had been found to be negative for BC in close family members. A common BC genetic screening test for the Polish population did not detect any known founder mutations in the BRCA1 gene. Further evaluation identified a p.Ile157Thr (I157T) mutation in the CHEK2 gene, a p.Ala1991Val (A1991V) variant of unknown significance in the BRCA2 gene, p.Lys751Gln (K751Q) variant in the XPD (ERCC2) gene, and a homozygous p.Glu1008Ter (E1008*) mutation in the NOD2 gene. No other mutation had been found by next generation sequencing in major BC high-risk susceptibility genes BRCA1, BRCA2, as well as 92 other genes. To date, all these found alterations have been considered as low to moderate risk factors in the general population and moderate risk factors in younger women (<35 years of age). There are no previous articles relating low and moderate risk gene mutations to very young onset (below 20 years) BC with a fatal outcome. In our patient, a possible cumulative or synergistic risk effect for these 4 alterations, and a mutation in the NOD2 gene in particular, of which both presumably healthy parents were found to be carriers, is suggested.

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Section: Discussionsupporting

confidence: 71%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

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Breast cancer in an 18-year-old female: A fatal case report and literature review

Jóźwik

Posmyk

Jóźwik

et al. 2018

Cancer Biology & Therapy

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“…In 2005, two studies conducted in the Polish population [65,106] showed the correlation between the insertion allele of rs2066847 polymorphism and higher risk of ductal breast cancer in situ, and in one of them [106] the additional connection with early-onset breast cancer was noted. The similar association with breast cancer arising before 50 years of life was also observed by Irmejs et al [67] in Latvian population and by Janiszewska et al [107] in another Polish population. For ovarian cancer, results are conflicting: Whereas Lubinski et al [65] found an association of the insertion allele of the rs2066847 polymorphism with increased ovarian cancer, Magnowski et al [108] observed no correlation.…”

Section: Nod2/card15 Gene Polymorphisms and Risk Of Gynecologic Cancesupporting

confidence: 68%

Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology

Kutikhin

2011

Human Immunology

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“…Other clinicopathological factors were also analyzed. Janiszewska et al (31) did not report any NOD2 mutations in patients diagnosed with breast cancer after the age of 50 years. There was no reported association between NOD2 mutations and a strong family history of breast cancer.…”

Section: Discussionmentioning

confidence: 98%

Molecular characteristics of breast cancer according to clinicopathological factors

Huszno

Kołosza

2019

mol clin onc

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The purpose of the present study was to evaluate the correlation between molecular factors such as BRCA1 DNA repair associated (BRCA1), checkpoint kinase 2 (CHEK2) and nucleotide binding oligomerization domain containing 2 (NOD2) gene mutations and clinicopathological factors in patients with breast cancer (BC). Prognostic factors were analyzed in BC patients with confirmed BRCA1 (n=73), CHEK2 (n=51) and NOD2 (n=31) mutations. The control group was selected from BC patients without mutations (n=392). The BRCA-associated cancer cases were significantly more often triple negative compared with sporadic cancer (62% vs. 14%; P=0.0001). Luminal B HER2-positive and HER2-positive non-luminal subtypes were observed more often in the control group (33 and 17%). The luminal A subtype was detected in 53% of CHEK2 mutation carriers and 45% of NOD2 mutation carriers. A lower histological grade was observed significantly more often in patients with CHEK2 mutations in comparison with the control group (88 vs. 69%; P=0.003). Lymph nodes without metastases were reported more frequently in NOD2 mutation carriers (74 vs. 54%; P=0.038), in BRCA1 mutations (73 vs. 54%; P= 0.004) and, although not significantly, in CHEK2 mutation carriers (69 vs. 54%; P=0.071) compared with the control group. In conclusion, BRCA1 mutation was associated with TNBC and the luminal B HER2 (-) subtype. HER2-positive subtypes were characteristic of the control group. CHEK2 and NOD2 mutation carriers had a more favorable profile of prognostic factors.

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The NOD2 3020insC Mutation in Women with Breast Cancer from the Bydgoszcz Region in Poland. First Results

Cited by 7 publications

References 9 publications

Breast cancer in an 18-year-old female: A fatal case report and literature review

Breast cancer in an 18-year-old female: A fatal case report and literature review

Role of NOD1/CARD4 and NOD2/CARD15 gene polymorphisms in cancer etiology

Molecular characteristics of breast cancer according to clinicopathological factors

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