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Table 1 Summary of the 48 prospective BC or gynecological cancer patients included in the study

From: Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Patient_ID Institution Familial path_BRCA1 or path_BRCA2 variantFamilial path_BRCA1 or path_BRCA2 variant ICD9 diagnosis (age) Pathogenic variant identified in the current study
17,161 HCBNRH BRCA2 c.5217_5223delTTTAAGT (p.Tyr1739Terfs)BRCA2 c.5217_5223delTTTAAGT (p.Tyr1739Terfs) OC (67) ATM c.468G > A (p.Trp156Ter)*ATM c.468G > A (p.Trp156Ter)*
6475 HCBNRH BRCA1 c.1011dupA (p.Val340Glyfs)BRCA1 c.1011dupA (p.Val340Glyfs) BC (52) ATM c.9139C > T (p.Arg3047Ter)ATM c.9139C > T (p.Arg3047Ter)
13,141 HCBNRH BRCA1 c.1072delC (p.Leu358Cysfs)BRCA1 c.1072delC (p.Leu358Cysfs) EC (57) MSH6 c.2864delC (p.Thr955fs)*MSH6 c.2864delC (p.Thr955fs)*
1873 HCBNRH BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) MTHM (56), BC (70) Not
5378 HCBNRH BRCA1 c.697_698delGT (p.Val233Asnfs)BRCA1 c.697_698delGT (p.Val233Asnfs) BC (52) Not
5180 HCBNRH BRCA1 c.5194-2A > CBRCA1 c.5194-2A > C BC (39) Not
22 HCBNRH BRCA2 c.3847_3848delGT (p.Val1283Lysfs)BRCA2 c.3847_3848delGT (p.Val1283Lysfs) BC (63) Not
243 HCBNRH BRCA2 c.3847_3848delGT (p.Val1283Lysfs)BRCA2 c.3847_3848delGT (p.Val1283Lysfs) CVC (41) Not
5348 HCBNRH BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) BC (68) Not
6031 HCBNRH BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) BC (66) Not
6032 HCBNRH BRCA1 c.3228_3229delAG (p.Gly1077Alafs)BRCA1 c.3228_3229delAG (p.Gly1077Alafs) OC (55) Not
6207 HCBNRH BRCA1 c.697_698delGT (p.Val233Asnfs)BRCA1 c.697_698delGT (p.Val233Asnfs) BC (47) Not
8085 HCBNRH BRCA1 c.3228_3229delAG (p.Gly1077Alafs)BRCA1 c.3228_3229delAG (p.Gly1077Alafs) BC (55), CC (66) Not
11,717 HCBNRH BRCA1 c.1556delA (p.Lys519Argfs)BRCA1 c.1556delA (p.Lys519Argfs) BC(42,57) Not
12,470 HCBNRH BRCA1 c.3178G > T (p.Glu1060Ter) BC (39) Not
13,023 HCBNRH BRCA2 c.5217_5223delTTTAAGT (p.Tyr1739Terfs) BC (59) Not
15,529 HCBNRH BRCA2 c.4821_4823delTGAins BC (48) Not
22,325 HCBNRH BRCA1 c.5047G > T (p.Glu1683Ter) BC (45) Not
1,100,948 UM BRCA2 c.6591_6592delTG (p.Glu2198Asnfs) BC (44) BRCA2 c.9382C > T (p.Arg3128Ter)
12,010,643 UM BRCA2 c.7360delA (p.Ile2454Phefs) BC (56) MUTYH c.1178G > A (p.Gly393Asp)
75,443 UM BRCA2 c.5909C > A (p.Ser1970Ter) BC (55) Not
88,295 UM BRCA2 c.7977-1G > C BC (44) Not
64,949 UM BRCA2 c.5909C > A (p.Ser1970Ter) BC (55) Not
67,723 UM BRCA2 c.4866delA p.(Arg1622Serfs*14) BC (46) Not
84,510 UM BRCA2 c.5946delT (p.Ser1982Argfs) BC (67) Not
13,007,862 UM BRCA2 c.5909C > A (p.Ser1970Ter) BC (31) Not
9,009,462 UM BRCA2 c.6535_6536insA (p.Val2179Aspfs) BC (67) Not
900,178 UM BRCA2 c.1889delC (p.Thr630Asnfs) BC (49,77) Not
10,005,829 UM BRCA2 c.9541_9554del p.(Met318CysfsTer13) BC (38) Not
10,007,016 UM BRCA2 c.632-1G > A BC (51) Not
10,003,959 UM BRCA2 c.6275_6276delTT (p.Leu2092Profs) BC (55) Not
12,852 UM BRCA2 c.1929delG (p.Arg645Glufs) BC (56) Not
12,001,161 UM BRCA2 c.7958 T > C (p.Leu2653Pro) BC (67) Not
13,017,067 UM BRCA2 c.755_758delACAG (p.Asp252Valfs) BC (74) Not
688 UM BRCA2 c.1929delG (p.Arg645Glufs) BC (32) Not
40,540 UM BRCA2 c.8535_8538delAGAG p.(Glu2846LysfsTer16) BC (69) Not
9,001,644 UM BRCA2 c.4965C > G (p.Tyr1655Ter) BC (39, 45) Not
89,205 UM BRCA2 c.5946delT (p.Ser1982Argfs) BC (77) Not
10,002,068 UM BRCA2 del exons 14–16 BC (37) Not
10,004,590 UM BRCA2 c.2672dupT BC (67,67) Not
40,286 UM BRCA2 c.7069_7070delCT p.(Leu2357ValfsTer2) BC (36,53) Not
76,618 UM BRCA2 c.4478_4481delAAAG (p.Glu1493Valfs) BC (51) Not
12,015,576 UM BRCA2 c.9382C > T (p.Arg3128Ter) BC (45) Not
61,420 UM BRCA2 c.5350_5351delAA p.(Asn1784HisfsTer2) BC (59) Not
960,579 UM BRCA2 c.2808_2811del4 (p.Ala938Profs) BC (39) Not
14,965 UM BRCA2 c.5682C > G p.(Tyr1894Ter) BC (59) Not
20,468 UM BRCA2 c.6275_6276delTT (p.Leu2092Profs) BC (38) Not
56,193 UM BRCA2 c.7884dupA (p.Trp2629Metfs) BC (79) Not
  1. HCBNRH Hereditary Cancer Biobank from the Norwegian Radium Hospital (Norway), UM University of Manchester (United Kingdom), ICD9 diagnosis International Classification of Diseases, 9th Revision, OC Ovary cancer, BC Breast cancer, EC Endometrial cancer, MTHM Malignant neoplasm of thymus, heart, and mediastinum, CC Colon cancer, CVC Cervical cancer, *Considered pathogenic based in its nature (nonsense and frameshift), VUS Variants of unknown significance, NM for ATM NM_000051, BRCA1 NM_007294.3, BRCA2 NM_000059.3, MSH6 NM_001281492, MUTYH NM_012222