|
Anal canal squamous cell carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
BREAST CANCER, SUSCEPTIBILITY TO
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Breast Carcinoma
|
|
0.730 |
CausalMutation
|
CLINVAR |
About 1.5% (95% CI 0.6to 2.4) of Australasian multiple-case breast cancer families attending clinics are segregating protein-truncating mutations in PALB2, most being PALB2 c.3113G>A, p.Trp1038*.
|
23448497 |
2013 |
|
Breast Carcinoma
|
|
0.730 |
CausalMutation
|
CLINVAR |
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
|
21285249 |
2011 |
|
Breast Carcinoma
|
|
0.730 |
CausalMutation
|
CLINVAR |
Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
|
21182766 |
2010 |
|
Breast Carcinoma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
|
21182766 |
2010 |
|
Breast Carcinoma
|
|
0.730 |
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 |
|
Breast Carcinoma
|
|
0.730 |
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.
|
23448497 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Breast-cancer risk in families with mutations in PALB2.
|
25099575 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.
|
24206657 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A PALB2 mutation associated with high risk of breast cancer.
|
21182766 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
|
21285249 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
|
26534844 |
2016 |
|
Hereditary Malignant Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia.
|
23471749 |
2013 |
|
Malignant neoplasm of breast
|
|
0.730 |
CausalMutation
|
CLINVAR |
Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.
|
26283626 |
2015 |
|
Malignant neoplasm of breast
|
|
0.730 |
CausalMutation
|
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
|
Malignant neoplasm of breast
|
|
0.730 |
CausalMutation
|
CLINVAR |
Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.
|
25575445 |
2015 |
|
Malignant neoplasm of breast
|
|
0.730 |
GeneticVariation
|
BEFREE |
Further screening for PALB2 c.3113G > A (W1038X) was conducted for 779 families with multiple cases of breast cancer ascertained through family cancer clinics in Australia and New Zealand and 764 population-based controls.
|
21182766 |
2010 |
|
Malignant neoplasm of breast
|
|
0.730 |
CausalMutation
|
CLINVAR |
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.
|
24415441 |
2014 |
|
Malignant neoplasm of breast
|
|
0.730 |
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 |
|
Malignant neoplasm of breast
|
|
0.730 |
CausalMutation
|
CLINVAR |
Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer.
|
21285249 |
2011 |
|
Malignant neoplasm of breast
|
|
0.730 |
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 |
|
Malignant neoplasm of breast
|
|
0.730 |
CausalMutation
|
CLINVAR |
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 |
|
Malignant neoplasm of breast
|
|
0.730 |
CausalMutation
|
CLINVAR |
Breast-cancer risk in families with mutations in PALB2.
|
25099575 |
2014 |