Disease #00013

Official abbreviation -
Name cancer, breast
OMIM ID -
Individuals reported having this disease 92
Phenotype entries for this disease 83
Associated with 4 genes FBXO11, MLH3, MSH3, MUTYH
Associated tissues breast
Disease features -
Remarks -


Individuals

92 entries on 1 page. Showing entries 1 - 92.
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Reference     

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Geographic origin     

Ethnic origin     

Remarks     

Pedigree information available     

Family History     

Selection criteria for proband testing     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

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Owner     
00002044 InSiGHT Variant Interpretation Committee April 2016 - - - index with BC, no CRC known in MGZ 95242 (MammaCa triple-negative 49 y). - - - cancer, breast - PMS2 PMS2 1 1 Elke Holinski-Feder
00002045 InSiGHT Variant Interpretation Committee April 2016 - - - suspect of hered. Mamma- and Ovarial Ca, eventually somatic BRCA-Mutations detected? MammaCa 37 y - family history not informative. - cancer, breast - PMS2 PMS2 1 1 Elke Holinski-Feder
00002046 InSiGHT Variant Interpretation Committee April 2016 - - - MammaCa ED 55 y, paternal aunt and grandmother both BrCa, Tu block requested for IHC - - - cancer, breast - PMS2 PMS2 1 1 Elke Holinski-Feder
00002237 - - - - InSiGHT LOVDv2 ID:1008503; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, breast - MSH6 MSH6 1 1 Amanda Spurdle
00003215 - F DE - InSiGHT LOVDv2 ID:1012056; This data has been transferred from InSiGHT LOVDv2 database. - - - cancer, breast Additional info: yes; colon 39, breast 64, uterus 65; 39; Pedigree available: yes; MSH6 MSH6 2 1 Amie Blanco
00003664 - F Germany - - - no information - cancer, breast 45 y breast cancer right-sided, 50 y breast cancer left-sided, both Her2neu negative MLH1, MSH2, MSH6, PMS2 MLH1 2 1 Elke Holinski-Feder
00003776 - F Irish Caucasian - - Bethesda MSI cancer, breast, cancer, endometrial - MSH2, MSH6 MSH2 1 1 Michael Farrell
00003934 - F Argentina - - - - - CRC, Lynch Syndrome, cancer, breast - MLH1, MSH2 MLH1 1 1 Tamara Piñero
00016272 - F - - InSiGHT LOVDv2 ID:113; - - - cancer, breast - MLH1 MLH1 2 1 Michael Woods
00018950 - M - - InSiGHT LOVDv2 ID:1004983; - - - cancer, breast - MLH1 MLH1 1 1 Michael Woods
00022039 - F - - InSiGHT LOVDv2 ID:1012054; Yes Additional info: yes; Pedigree available: yes; - CRC, cancer, breast breast 61, colon 44, colon 59 MLH1 MLH1 1 1 Amie Blanco
00022226 - F - - InSiGHT LOVDv2 ID:1013527; - AM II - CRC, cancer, breast Breast cancer dx 66, CRC Metachronous (45y;50y) MLH1 MLH1 1 1 InSiGHT group
00022236 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013537; - Bethesda - CRC, cancer, breast, cancer, endometrial , Breast cancer 56, Endometrial cancer 53 MLH1 MLH1 1 1 InSiGHT group
00022238 - F - - BRAF V600E mutation status: WT; BRAF testing method: SEQ;InSiGHT LOVDv2 ID:1013539; - AM II - cancer, breast, cancer, endometrial , Breast cancer dx 49 MLH1 MLH1 1 1 InSiGHT group
00022605 - - - - InSiGHT LOVDv2 ID:1016606; - Bethesda - CRC, cancer, breast Breast40, colon39, MSI H, ihc mlh1-, pms2- MLH1 MLH1 1 1 InSiGHT group
00022607 - - - - InSiGHT LOVDv2 ID:1016608; - - - CRC, cancer, breast, cancer, endometrial Breast58, colon58, Endom55 MLH1 MLH1 1 1 InSiGHT group
00022629 - F - - InSiGHT LOVDv2 ID:1016682; - Bethesda - CRC, cancer, breast Adenocarcinoma of ascending colon, breast cancer at 56 yrs MLH1 MLH1 2 1 InSiGHT group
00022656 - F - - InSiGHT LOVDv2 ID:1016725; - Am I - cancer, breast - MLH1 MLH1 1 1 InSiGHT group
00023838 - ? - - InSiGHT LOVDv2 ID:1000123; - - - cancer, breast - MSH2 MSH2 1 1 Michael Woods
00024788 - ? - - InSiGHT LOVDv2 ID:1000124; - - - cancer, breast - MSH2 MSH2 1 1 Michael Woods
00026356 - ? - - InSiGHT LOVDv2 ID:1000125; - - - cancer, breast - MSH2 MSH2 1 1 Michael Woods
00026791 - ? - - InSiGHT LOVDv2 ID:1000126; - - - cancer, breast - MSH2 MSH2 1 1 Michael Woods
00028175 - ? - - InSiGHT LOVDv2 ID:12850; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028176 - ? - - InSiGHT LOVDv2 ID:12851; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028177 - ? - - InSiGHT LOVDv2 ID:12852; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028187 - ? - - InSiGHT LOVDv2 ID:12859; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028188 - ? - - InSiGHT LOVDv2 ID:12860; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028189 - ? - - InSiGHT LOVDv2 ID:12862; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028190 - ? - - InSiGHT LOVDv2 ID:12863; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028191 - ? - - InSiGHT LOVDv2 ID:12864; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028195 - ? - - InSiGHT LOVDv2 ID:12867; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028211 - ? - - InSiGHT LOVDv2 ID:12877; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028212 - ? - - InSiGHT LOVDv2 ID:12878; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028217 - ? - - InSiGHT LOVDv2 ID:12879; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028218 - ? - - InSiGHT LOVDv2 ID:12880; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028219 - ? - - InSiGHT LOVDv2 ID:12881; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028221 - ? - - InSiGHT LOVDv2 ID:12883; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028222 - ? - - InSiGHT LOVDv2 ID:12884; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028223 - ? - - InSiGHT LOVDv2 ID:12885; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028229 - ? - - InSiGHT LOVDv2 ID:12886; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028231 - ? - - InSiGHT LOVDv2 ID:12888; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028233 - ? - - InSiGHT LOVDv2 ID:12890; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028234 - ? - - InSiGHT LOVDv2 ID:12794; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 2 1 Michael Woods
00028237 - ? - - InSiGHT LOVDv2 ID:12795; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 2 1 Michael Woods
00028244 - ? - - InSiGHT LOVDv2 ID:12796; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 2 1 Michael Woods
00028245 - ? - - InSiGHT LOVDv2 ID:12893; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028246 - ? - - InSiGHT LOVDv2 ID:12894; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028247 - ? - - InSiGHT LOVDv2 ID:12797; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 2 1 Michael Woods
00028248 - ? - - InSiGHT LOVDv2 ID:12895; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028249 - ? - - InSiGHT LOVDv2 ID:12896; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028250 - ? - - InSiGHT LOVDv2 ID:12798; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 2 1 Michael Woods
00028251 - ? - - InSiGHT LOVDv2 ID:12799; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 2 1 Michael Woods
00028256 - ? - - InSiGHT LOVDv2 ID:12899; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028258 - ? - - InSiGHT LOVDv2 ID:12901; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028274 - ? - - InSiGHT LOVDv2 ID:12906; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028275 - ? - - InSiGHT LOVDv2 ID:12907; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028283 - ? - - InSiGHT LOVDv2 ID:12908; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028284 - ? - - InSiGHT LOVDv2 ID:12909; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028287 - ? - - InSiGHT LOVDv2 ID:12912; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028289 - ? - - InSiGHT LOVDv2 ID:12914; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 1 1 Michael Woods
00028290 - ? - - InSiGHT LOVDv2 ID:12801; - - - cancer, breast cancer, breast, invasive PMS2 PMS2 2 1 Michael Woods
00028573 - F - - - - none - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, MSH6, PMS2 9 1 Jack Ji
00028585 - F - - - - none - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH6, PMS2 4 1 Jack Ji
00028586 - F - - - - none - cancer, breast Breast Cancer (atypical hyperplasia) MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, MSH6, PMS2 10 1 Jack Ji
00028603 - F - - - - Mother (58, dec.) had Ovarian Cancer at 58 years old - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, MSH6, PMS2 11 1 Jack Ji
00028608 - F - - - - Mother (50, dec.) had Breast Cancer - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, PMS2 7 1 Jack Ji
00028612 - F - - - - Maternal aunt (71) had Lymphoma at 70 years old; Maternal aunt (71) had Colorectal Cancer at 70 years old; Sister (31) had Breast Cancer at 30 years old; Maternal grandmother (90 or older, dec.) had Colorectal Cancer at 80 years old - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, PMS2 11 1 Jack Ji
00028636 - F - - - - Sister (63) had Breast Cancer at 47 years old; Paternal aunt (67, dec.) had Liver at 66 years old; Father (70, dec.) had Throid at 68 years old; Father (70, dec.) had Lung at 69 years old - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH6, PMS2 6 1 Jack Ji
00028638 - F - - - - Maternal aunt (70, dec.) had Breast Cancer at 50 years old - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, MSH6, PMS2 8 1 Jack Ji
00028639 - F - - - - Sister (42, dec.) had Breast Cancer at 42 years old; Maternal aunt (90 or older, dec.) had Breast Cancer at 55 years old; Maternal grandfather (86, dec.) had Lung Cancer at 70 years old - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, MSH6, PMS2 12 1 Jack Ji
00028645 - F - - - - Mother (1) had Breast Cancer at 28 years old; Sister (41) had Breast Cancer at 40 years old - cancer, breast Breast Cancer MLH1, MSH2, MSH6, PMS2 MLH1, MSH2, MSH6, PMS2 11 1 Jack Ji
00028652 - M Germany - sister died from CC, brother died from brainTu 67y, other brother 60y liverTu, father died from gastric Ca 47y, aunt died from CC at 70y, BRCA1+2, PALB2 screening normal - none panel testing cancer, breast adenocarcinoma in breast (ICD-10:C50.9) MLH1, MSH2, MSH6, PMS2 MLH1 1 1 John Paul Plazzer
00033745 Colas & Sourroulle F - - MOSAIC p.Lys847fsX44 in Sourrouille I, Coulet F, Lefevre JH, Colas C, Eyries M, Svrcek M, Bardier-Dupas A, Parc Y, Soubrier F. Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors. Fam Cancer. 2013 Mar;12(1):27-33. doi: 10.1007/s10689-012-9568-9. (Patient 10) - Nil Referred to Genetics by: Surgeon; Referral reason: MTS in son CRC, cancer, breast BR;carcinoma 66y, Sigmoid;Carcinoma + 2 RC;tubular adenomas (2 & 1.5cm) + Rectal;tubular adenoma (5mm) 44y - MSH2 1 1 Ian Frayling
00033757 - F USA - - - The family history is remarkable for breast cancer, but the variant does not appear to segregate with the maternal side breast cancers. - cancer, breast metastatic breast cancer. breast tumor IHC demonstrates loss of expression of MSH2 with intact MLH1, MSH6 and PMS2 - MSH2 1 1 John Paul Plazzer
00033758 - - - - - - 4 pat cousins with breast cancer >50; pat aunt with brain ? age - cancer, breast - - MSH2 1 1 John Paul Plazzer
00033795 Rashid et al, 2016 F Pakistan - 67-year-old female patient with breast cancer, who had previously tested negative for a deleterious mutation in the breast cancer susceptibility genes BRCA1, BRCA2, CHEK2 or RAD51C. The patient reported a personal history of endometrial cancer diagnosed at age 48 Yes Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome: strong family history of breast and ovarian cancer, as well as several other malignancies within the spectrum of LS. The novel mutation was also found in the index patient's daughter and a niece, who were diagnosed with endometrial and ovarian cancer, respectively. - cancer, breast, cancer, endometrial Immunohistochemical (IHC) analyses showed that the tumor was negative for estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER-2), MSH2 and MSH6 expression. Breast and endometrial tumors from c.2656G > T mutation carriers showed loss of MSH2 and MSH6 protein expression., She reported a prior diagnosis of endometrial carcinoma at age 48, for which she had undergone a total abdominal hysterectomy and bilateral salpingo-oophorectomy. - MSH2 1 1 John Paul Plazzer
00034088 Hu et al. 2017 F China Chinese - Yes "family could be diagnosed as having Lynch syndrome if they were excluded from familial adenomatous polyposis (FAP). In fact, patients who were still alive were all proved to be FAP-negative by colonoscopy during the regular follow-up." - cancer, cancer, breast, cancer, endometrial, cancer, kidney , Left renal pelvis, Right breast, small intestine cancer - MSH2 1 1 John Paul Plazzer
00034876 Clinical Genetics, LUMC, Leiden, NL F (Netherlands) - - - - - cancer, breast - MUTYH MUTYH 2 1 Carli Tops
00034997 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - cancer, breast - MUTYH MUTYH 3 1 Carli Tops
00034998 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - cancer, breast - MUTYH MUTYH 4 1 Carli Tops
00034999 Out 2009 F Netherlands - - - - - cancer, breast - MUTYH MUTYH 2 1 Carli Tops
00035000 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - cancer, breast - MUTYH MUTYH 5 1 Carli Tops
00035001 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - cancer, breast - MUTYH MUTYH 2 1 Carli Tops
00035002 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - cancer, breast - MUTYH MUTYH 3 1 Carli Tops
00035003 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - cancer, breast - MUTYH MUTYH 3 1 Carli Tops
00035004 Clinical Genetics, LUMC, Leiden, NL F Netherlands - - - - - cancer, breast - MUTYH MUTYH 2 1 Carli Tops
00035518 Molecular Medicine, AUH, Skejby, Aarhus, DK - Denmark - patient not screened for MSH6 mutations (see Niessen R et al. Hum Genet 119, 206-11, 2006). In addition the patient had c.mammae at 61y - - - cancer, breast cancer, rectal MUTYH MUTYH 1 1 Mette Gaustadnes
00035896 Zhang 2006 F United States white 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls - - - cancer, breast breast cancer MUTYH MUTYH 2 2 Astrid Out
00035897 Zhang 2006 F United States white 98 (6.2%) heterozygotes among 1593 breast cancer patients; '96 (7.6%) heterozygotes among 1261 controls - - - cancer, breast breast cancer MUTYH MUTYH 1 98 Astrid Out
00035992 Beiner 2009 F Canada Fench-Canadian;Jewish;other white 691 breast cancer patients: 8 (1.2%) heterozygous c.1187G>A; 812 controls: 8 (1.0%) heterozygous - - - cancer, breast - MUTYH MUTYH 1 8 Astrid Out
00035993 Beiner 2009 F Canada white 691 breast cancer patients: 4 (0.6%) heterozygous c.1187G>A; 812 controls: 5 (0.6%) heterozygous - - - cancer, breast - MUTYH MUTYH 1 4 Astrid Out
00036091 - F Italy - patient tested with Invitae Breast and Gyn Guidelines-based panel. The patient had DCIS at 57 and underwent recto-sigmoidoscopy in the first months of 2018 and no cancers nor polyps were found. - No diagnoses of Lynch-related cancers have been reported in the patient's family with an exception of a maternal uncle affected by colorectal cancer aged 78. Other cancers reported in her family are: maternal aunt breast cancer at 70, maternal grandmother breast cancer at 50. The patient's father died at 86 and her mother is still alive at 88. No further family members were tested. - cancer, breast DCIS - MLH1 1 1 John Paul Plazzer
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