| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. | 9609997 | 1998 |
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|
0.700 | GeneticVariation | UNIPROT | A low proportion of BRCA2 mutations in Finnish breast cancer families. | 9150152 | 1997 |
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|
0.700 | GeneticVariation | UNIPROT | BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. | 12442274 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. | 15172753 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | BRCA2 gene mutations in families with aggregations of breast and stomach cancers. | 12373604 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations-fluorescent mutation detection (F-MD). | 11241844 | 2001 |
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|
GG | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.020 | GeneticVariation | BEFREE | Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations. | 23471749 | 2013 |
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|
0.020 | GeneticVariation | BEFREE | For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10<sup>-5</sup>), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10<sup>-8</sup>) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). | 27595995 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
ATG | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
CA | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR |