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Breast Cancer v1.18 MSH6 Chirag Patel Marked gene: MSH6 as ready
Breast Cancer v1.18 MSH6 Chirag Patel Gene: msh6 has been classified as Red List (Low Evidence).
Breast Cancer v1.18 PMS2 Chirag Patel Marked gene: PMS2 as ready
Breast Cancer v1.18 PMS2 Chirag Patel Gene: pms2 has been classified as Red List (Low Evidence).
Breast Cancer v1.18 RECQL Chirag Patel Marked gene: RECQL as ready
Breast Cancer v1.18 RECQL Chirag Patel Gene: recql has been classified as Red List (Low Evidence).
Breast Cancer v1.18 RECQL Chirag Patel gene: RECQL was added
gene: RECQL was added to Breast Cancer. Sources: ClinGen
disputed tags were added to gene: RECQL.
Mode of inheritance for gene: RECQL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RECQL were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: RECQL was set to RED
Added comment: ClinGen DISPUTED - Mar 2023
Sources: ClinGen
Breast Cancer v1.17 PMS2 Chirag Patel gene: PMS2 was added
gene: PMS2 was added to Breast Cancer. Sources: ClinGen
disputed tags were added to gene: PMS2.
Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PMS2 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: PMS2 was set to RED
Added comment: ClinGen DISPUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.16 MSH6 Chirag Patel gene: MSH6 was added
gene: MSH6 was added to Breast Cancer. Sources: ClinGen
disputed tags were added to gene: MSH6.
Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH6 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: MSH6 was set to RED
Added comment: ClinGen DISPUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.15 MUTYH Chirag Patel Mode of inheritance for gene: MUTYH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Breast Cancer v1.14 MUTYH Chirag Patel Tag disputed tag was added to gene: MUTYH.
Breast Cancer v1.14 MUTYH Chirag Patel Deleted their comment
Breast Cancer v1.14 MUTYH Chirag Patel edited their review of gene: MUTYH: Added comment: ClinGen DISPUTED (AR) and REFUTED (AD) - Dec 2023; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Breast Cancer v1.14 XRCC2 Chirag Patel Marked gene: XRCC2 as ready
Breast Cancer v1.14 XRCC2 Chirag Patel Gene: xrcc2 has been classified as Red List (Low Evidence).
Breast Cancer v1.14 SLX4 Chirag Patel Marked gene: SLX4 as ready
Breast Cancer v1.14 SLX4 Chirag Patel Gene: slx4 has been classified as Red List (Low Evidence).
Breast Cancer v1.14 RINT1 Chirag Patel Marked gene: RINT1 as ready
Breast Cancer v1.14 RINT1 Chirag Patel Gene: rint1 has been classified as Red List (Low Evidence).
Breast Cancer v1.14 RAD50 Chirag Patel Marked gene: RAD50 as ready
Breast Cancer v1.14 RAD50 Chirag Patel Gene: rad50 has been classified as Red List (Low Evidence).
Breast Cancer v1.14 PIK3CA Chirag Patel Marked gene: PIK3CA as ready
Breast Cancer v1.14 PIK3CA Chirag Patel Gene: pik3ca has been classified as Red List (Low Evidence).
Breast Cancer v1.14 XRCC2 Chirag Patel gene: XRCC2 was added
gene: XRCC2 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: XRCC2.
Mode of inheritance for gene: XRCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: XRCC2 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: XRCC2 was set to RED
Added comment: ClinGen REFUTED - Mar 2023
Sources: ClinGen
Breast Cancer v1.13 SLX4 Chirag Patel gene: SLX4 was added
gene: SLX4 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: SLX4.
Mode of inheritance for gene: SLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLX4 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: SLX4 was set to RED
Added comment: ClinGen REFUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.12 RINT1 Chirag Patel gene: RINT1 was added
gene: RINT1 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: RINT1.
Mode of inheritance for gene: RINT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RINT1 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: RINT1 was set to RED
Added comment: ClinGen REFUTED - Mar 2023
Sources: ClinGen
Breast Cancer v1.11 RAD50 Chirag Patel gene: RAD50 was added
gene: RAD50 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: RAD50.
Mode of inheritance for gene: RAD50 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD50 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: RAD50 was set to RED
Added comment: ClinGen REFUTED - Mar 2023
Sources: ClinGen
Breast Cancer v1.10 PIK3CA Chirag Patel gene: PIK3CA was added
gene: PIK3CA was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: PIK3CA.
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: PIK3CA was set to RED
Added comment: ClinGen REFUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.9 NBN Chirag Patel Marked gene: NBN as ready
Breast Cancer v1.9 NBN Chirag Patel Gene: nbn has been classified as Red List (Low Evidence).
Breast Cancer v1.9 NBN Chirag Patel gene: NBN was added
gene: NBN was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: NBN.
Mode of inheritance for gene: NBN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NBN were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: NBN was set to RED
Added comment: ClinGen REFUTED - Mar 2023
Sources: ClinGen
Breast Cancer v1.8 MUTYH Chirag Patel Marked gene: MUTYH as ready
Breast Cancer v1.8 MUTYH Chirag Patel Gene: mutyh has been classified as Red List (Low Evidence).
Breast Cancer v1.8 MUTYH Chirag Patel gene: MUTYH was added
gene: MUTYH was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: MUTYH.
Mode of inheritance for gene: MUTYH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MUTYH were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: MUTYH was set to RED
Added comment: ClinGen REFUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.7 MSH2 Chirag Patel Marked gene: MSH2 as ready
Breast Cancer v1.7 MSH2 Chirag Patel Gene: msh2 has been classified as Red List (Low Evidence).
Breast Cancer v1.7 MSH2 Chirag Patel gene: MSH2 was added
gene: MSH2 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: MSH2.
Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSH2 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: MSH2 was set to RED
Added comment: ClinGen REFUTED - Mar 2023
Sources: ClinGen
Breast Cancer v1.6 MRE11 Chirag Patel Marked gene: MRE11 as ready
Breast Cancer v1.6 MRE11 Chirag Patel Gene: mre11 has been classified as Red List (Low Evidence).
Breast Cancer v1.6 MRE11 Chirag Patel gene: MRE11 was added
gene: MRE11 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: MRE11.
Mode of inheritance for gene: MRE11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MRE11 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: MRE11 was set to RED
Added comment: ClinGen REFUTED - Mar 2023
Sources: ClinGen
Breast Cancer v1.5 MLH1 Chirag Patel Marked gene: MLH1 as ready
Breast Cancer v1.5 MLH1 Chirag Patel Gene: mlh1 has been classified as Red List (Low Evidence).
Breast Cancer v1.5 MLH1 Chirag Patel gene: MLH1 was added
gene: MLH1 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: MLH1.
Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MLH1 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: MLH1 was set to RED
Added comment: ClinGen REFUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.4 EPCAM Chirag Patel Marked gene: EPCAM as ready
Breast Cancer v1.4 EPCAM Chirag Patel Gene: epcam has been classified as Red List (Low Evidence).
Breast Cancer v1.4 GEN1 Chirag Patel Marked gene: GEN1 as ready
Breast Cancer v1.4 GEN1 Chirag Patel Gene: gen1 has been classified as Red List (Low Evidence).
Breast Cancer v1.4 GEN1 Chirag Patel gene: GEN1 was added
gene: GEN1 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: GEN1.
Mode of inheritance for gene: GEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GEN1 were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: GEN1 was set to RED
Added comment: ClinGen REFUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.3 EPCAM Chirag Patel gene: EPCAM was added
gene: EPCAM was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: EPCAM.
Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EPCAM were set to Hereditary breast carcinoma, MONDO:0016419
Review for gene: EPCAM was set to RED
Added comment: ClinGen REFUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.2 BRIP1 Chirag Patel Marked gene: BRIP1 as ready
Breast Cancer v1.2 BRIP1 Chirag Patel Gene: brip1 has been classified as Red List (Low Evidence).
Breast Cancer v1.2 BRIP1 Chirag Patel gene: BRIP1 was added
gene: BRIP1 was added to Breast Cancer. Sources: ClinGen
refuted tags were added to gene: BRIP1.
Mode of inheritance for gene: BRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRIP1 were set to Hereditary breast carcinoma MONDO:0016419
Review for gene: BRIP1 was set to RED
Added comment: ClinGen REFUTED - Dec 2023
Sources: ClinGen
Breast Cancer v1.1 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Cancer Germline; Adult Genetics Unit, Royal Adelaide Hospital
Breast Cancer v1.0 Zornitza Stark promoted panel to version 1.0
Breast Cancer v0.27 Zornitza Stark Panel status changed from internal to public
Breast Cancer v0.26 TP53 Zornitza Stark Marked gene: TP53 as ready
Breast Cancer v0.26 TP53 Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence).
Breast Cancer v0.26 STK11 Zornitza Stark Marked gene: STK11 as ready
Breast Cancer v0.26 STK11 Zornitza Stark Gene: stk11 has been classified as Green List (High Evidence).
Breast Cancer v0.26 RAD51D Zornitza Stark Marked gene: RAD51D as ready
Breast Cancer v0.26 RAD51D Zornitza Stark Gene: rad51d has been classified as Green List (High Evidence).
Breast Cancer v0.26 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Breast Cancer v0.26 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Breast Cancer v0.26 PTEN Zornitza Stark Marked gene: PTEN as ready
Breast Cancer v0.26 PTEN Zornitza Stark Gene: pten has been classified as Green List (High Evidence).
Breast Cancer v0.26 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Breast Cancer v0.26 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Breast Cancer v0.26 NF1 Zornitza Stark Marked gene: NF1 as ready
Breast Cancer v0.26 NF1 Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 CHEK2 Zornitza Stark Marked gene: CHEK2 as ready
Breast Cancer v0.26 CHEK2 Zornitza Stark Gene: chek2 has been classified as Green List (High Evidence).
Breast Cancer v0.26 CDH1 Zornitza Stark Marked gene: CDH1 as ready
Breast Cancer v0.26 CDH1 Zornitza Stark Gene: cdh1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Breast Cancer v0.26 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Breast Cancer v0.26 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Breast Cancer v0.26 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 BARD1 Zornitza Stark Marked gene: BARD1 as ready
Breast Cancer v0.26 BARD1 Zornitza Stark Gene: bard1 has been classified as Green List (High Evidence).
Breast Cancer v0.26 ATM Zornitza Stark Marked gene: ATM as ready
Breast Cancer v0.26 ATM Zornitza Stark Gene: atm has been classified as Green List (High Evidence).
Breast Cancer v0.26 CHEK2 Chirag Patel Classified gene: CHEK2 as Green List (high evidence)
Breast Cancer v0.26 CHEK2 Chirag Patel Gene: chek2 has been classified as Green List (High Evidence).
Breast Cancer v0.25 ATM Chirag Patel Classified gene: ATM as Green List (high evidence)
Breast Cancer v0.25 ATM Chirag Patel Gene: atm has been classified as Green List (High Evidence).
Breast Cancer v0.24 BARD1 Chirag Patel Classified gene: BARD1 as Green List (high evidence)
Breast Cancer v0.24 BARD1 Chirag Patel Gene: bard1 has been classified as Green List (High Evidence).
Breast Cancer v0.23 BARD1 Chirag Patel gene: BARD1 was added
gene: BARD1 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BARD1 were set to Breast cancer, MONDO:0007254; BARD1-related cancer predisposition, MONDO:0700267; Breast cancer, susceptibility to, MIM#114480
Review for gene: BARD1 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.22 BRCA1 Chirag Patel Classified gene: BRCA1 as Green List (high evidence)
Breast Cancer v0.22 BRCA1 Chirag Patel Gene: brca1 has been classified as Green List (High Evidence).
Breast Cancer v0.21 BRCA2 Chirag Patel Classified gene: BRCA2 as Green List (high evidence)
Breast Cancer v0.21 BRCA2 Chirag Patel Gene: brca2 has been classified as Green List (High Evidence).
Breast Cancer v0.20 CDH1 Chirag Patel Classified gene: CDH1 as Green List (high evidence)
Breast Cancer v0.20 CDH1 Chirag Patel Gene: cdh1 has been classified as Green List (High Evidence).
Breast Cancer v0.19 NF1 Chirag Patel Classified gene: NF1 as Green List (high evidence)
Breast Cancer v0.19 NF1 Chirag Patel Gene: nf1 has been classified as Green List (High Evidence).
Breast Cancer v0.18 PALB2 Chirag Patel Classified gene: PALB2 as Green List (high evidence)
Breast Cancer v0.18 PALB2 Chirag Patel Gene: palb2 has been classified as Green List (High Evidence).
Breast Cancer v0.17 PTEN Chirag Patel Classified gene: PTEN as Green List (high evidence)
Breast Cancer v0.17 PTEN Chirag Patel Gene: pten has been classified as Green List (High Evidence).
Breast Cancer v0.16 RAD51C Chirag Patel Classified gene: RAD51C as Green List (high evidence)
Breast Cancer v0.16 RAD51C Chirag Patel Gene: rad51c has been classified as Green List (High Evidence).
Breast Cancer v0.15 RAD51D Chirag Patel Classified gene: RAD51D as Green List (high evidence)
Breast Cancer v0.15 RAD51D Chirag Patel Gene: rad51d has been classified as Green List (High Evidence).
Breast Cancer v0.14 STK11 Chirag Patel Classified gene: STK11 as Green List (high evidence)
Breast Cancer v0.14 STK11 Chirag Patel Gene: stk11 has been classified as Green List (High Evidence).
Breast Cancer v0.13 TP53 Chirag Patel Classified gene: TP53 as Green List (high evidence)
Breast Cancer v0.13 TP53 Chirag Patel Gene: tp53 has been classified as Green List (High Evidence).
Breast Cancer v0.12 TP53 Chirag Patel gene: TP53 was added
gene: TP53 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP53 were set to Breast cancer, MONDO:0007254; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623
Review for gene: TP53 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.

Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).
Sources: Expert list, Expert Review
Breast Cancer v0.11 STK11 Chirag Patel gene: STK11 was added
gene: STK11 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: STK11 were set to Breast cancer, MONDO:0007254; Peutz-Jeghers syndrome, MONDO:0008280; Peutz-Jeghers syndrome, MIM#175200
Review for gene: STK11 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.

Single gene testing may be more appropriate if clinical features of JPS.
Sources: Expert list, Expert Review
Breast Cancer v0.10 RAD51D Chirag Patel gene: RAD51D was added
gene: RAD51D was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: RAD51D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51D were set to Breast cancer, MONDO:0007254; RAD51D-related cancer predisposition, MONDO:0700274; Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669; Breast-ovarian cancer, familial, susceptibility to, 4, MIM#614291
Review for gene: RAD51D was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.9 RAD51C Chirag Patel gene: RAD51C was added
gene: RAD51C was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: RAD51C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51C were set to Breast cancer, MONDO:0007254; RAD51C-related cancer predisposition, MONDO:0700273; Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253; Breast-ovarian cancer, familial, susceptibility to, 3, MIM#613399
Review for gene: RAD51C was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.8 PTEN Chirag Patel gene: PTEN was added
gene: PTEN was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to Breast cancer, MONDO:0007254; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350
Review for gene: PTEN was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.7 PALB2 Chirag Patel gene: PALB2 was added
gene: PALB2 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PALB2 were set to Breast cancer, MONDO:0007254; PALB2-related cancer predisposition, MONDO:0700272; Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442; Pancreatic cancer, susceptibility to, 3, MIM#613348
Review for gene: PALB2 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.6 NF1 Chirag Patel gene: NF1 was added
gene: NF1 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NF1 were set to Breast cancer, MONDO:0007254; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200
Review for gene: NF1 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.

Single gene testing may be more appropriate if clinical features of NF1.
Sources: Expert list, Expert Review
Breast Cancer v0.5 CDH1 Chirag Patel gene: CDH1 was added
gene: CDH1 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CDH1 were set to Breast cancer, MONDO:0007254; CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488; Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, MIM#137215
Review for gene: CDH1 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.4 BRCA2 Chirag Patel gene: BRCA2 was added
gene: BRCA2 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA2 were set to Breast cancer, MONDO:0007254; BRCA2-related cancer predisposition, MONDO:0700269; Breast-ovarian cancer, familial, 2, MIM#612555
Review for gene: BRCA2 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.3 BRCA1 Chirag Patel gene: BRCA1 was added
gene: BRCA1 was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Breast cancer, MONDO:0007254; BRCA1-related cancer predisposition, MONDO:0700268; Breast-ovarian cancer, familial, 1, MIM#604370
Review for gene: BRCA1 was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.
Sources: Expert list, Expert Review
Breast Cancer v0.2 ATM Chirag Patel gene: ATM was added
gene: ATM was added to Breast Cancer. Sources: Expert list,Expert Review
Mode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATM were set to Breast cancer, MONDO:0007254; ATM-related cancer predisposition, MONDO:0700270; Breast cancer, susceptibility to, MIM#114480
Review for gene: ATM was set to GREEN
Added comment: ClinGen definitive. Breast cancers reported in condition.

Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).
Sources: Expert list, Expert Review
Breast Cancer v0.1 CHEK2 Chirag Patel gene: CHEK2 was added
gene: CHEK2 was added to Breast Cancer. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHEK2 were set to PMID: 33322746, 36529447
Phenotypes for gene: CHEK2 were set to Breast cancer, MONDO:0007254; CHEK2-related cancer predisposition, MONDO:0700271; Breast/prostate cancer, susceptibility to, MIM#609265
Review for gene: CHEK2 was set to GREEN
Added comment: Established gene-disease association. Breast cancers reported in condition.

Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).
Sources: Expert list, Expert Review, Literature
Breast Cancer v0.0 Chirag Patel Added Panel Breast Cancer
Set panel types to: Cancer Germline